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Приложение 8. 239 8 страница

1082. Forget B.G. (1978). Molecular lesions in thalassemia, Trends in Biochemical Science, Vol. 3, 86-90.

1083. Forget B.C., Wilson J.T., Wilson L.В., Cavallesco C., Reddy V. B., de Rie! J.K., Biro A. P., Ghosh P. K., Weissman S. M. (1979). Globin mRNA structure: general features and sequence homology. In: Stamatoyannopoulos G., Nienhuis A. (eds.), Cellular and molecular regulation of hemoglobin switching, Grune and Stratton, New York, pp. 569-593.

1084. Franceschetti A., Klein D. (1954). Le dépistage des hétérozygotes, in: Gedda L. (ed.), Genetica medica, Orrizonte Midico, Rome.

1085. Fraser F. С., Walker В. E., Trasler D. G. (1957) Experimental production of congenital clefl palate: Genetic and environmental factors Pediatrics [Suppl], 19, 782.

Литература 279

1086. Fratantoni J.C., Hall С. W., Nettfeld E. F. (1968). Hunter and Hurler syndromes. Mutual correction of the defect in cultured fibroblasts, Science, 162, 570-572.

1087. Fredrickson D. S., Goldstein J. L., Brown M. S. (1978). The familial hyperlipoproteinemias. In: Stanbury J. В., Wyngaarden J. В., Fredrickson D. S. (eds.), The metabolic basis of inherited disease, 4th éd., pp. 604-655, MaGrawHill, New York.

1088. Frézal J., Munnich A., Mitchell G. (1983). One gene, several messages. From multifunctional proteins to endogenous opiates, Hum. Genet, 56, 311-314.

1089. Friedman M.J. (1978). Erythrocytic mechanism of sickle cell resistance to malaria, Proc. Natl. Acad. Sei. USA, 75, 1994-1997.

1090. Friedmann T., Seegmiller J. E., Subak-SharpeJ.H. (1968). Metabolic cooperation between genetically marked human fibroblasts in tissue culture, Nature, 220, 272-274.

1091. Garrod A.E. (1963). Inborn errors of metabolism, London 1923, reprinted by Oxford Univ. Press.

1092. Ge/га R. S., Rosen R. S., Mener E. (1973). Identification and characterization of subpopulations of lymphocytes in human peripheral blood after fractionation on discontinuous gradients of albumin: the cellular defect in X-linked agammaglobulinemia, J. Clin. Invest., 52, 1726-1734.

1093. Gelinas R., Endlich В., Pfeiffer С., Yagi M., Stamatoyannopoulos G. (1985). G to A substitution in the distal CCAAT box of the A γ-globin gene in Greek hereditary persistence of fetal hemoglobin, Nature, 313, 323-325.

1094. Geisler M., Kleinebrecht J., Degenhardt K.-H. (1972). Histologische Analysen an triploiden Spontanaborten, Hum. Genet., 16, 283294.

1095. Helb A. F., Klein E., Lieberman J. (1977). Pulmonary function in nonsmoking subjects with alpha 1-antitrypsine deficiency (MZ phenotype), Am. J. Med., 62, 93.

1096. George D.L., Franche V. (1976). Gene dosage effect: regional mapping of human nucleoside phosphorylase on chromosome 14, Science, 194, 851-852.

1097. Gerhard D.S., Kidd K.K., Kidd J.R., EgelandJ.A. (1984). Identification of a recent recombination event within the human β-globin gene cluster, Proc. Natl. Acad. Sei. USA, 81, 7875-7879.

1098. Giblett E.R., Anderson J.E., Cohen F., Pollara В., Neuwissen H.J. (1972). Adenosine deaminase deficiency in two patients with severely impaired cellular immunity, Lancet, II, 1067-1069.

1099. Gibson Q.H. (1948). The reduction of methaemoglobin in red blood cells and studies on the cause of idiopathic methaemoglobulinaemia Biochem J., 42, 13-23.

1100. Gibson Q.H., Harrison D.C. (1947). Familial idiopathic methaemoglobinemia, Lancet, П, 941-943.

1101. Gilbert W. (1978). Why genes in pieces? nature, 271, 501.

1102. Glenner G. G., Ignaczak T. F., Page D. L. (1978). The inherited systemic amyloidoses and localized amyloid deposits. In: Stanbury J. B., Wyngaarden J. B., Fredrickson D. S. (eds), The metabolic basis of inherited disease, 4th ed., McGraw-Hill, New York, pp. 1308-1339. (Summary 5th éd., pp. 1468-1469).

1103. Goedde H.W., Agarwal O.P. (1978). Pseudocholinesterase variation, International Titisee Conference, Titisee, 13-15, October 1977, Hum Genet. [Suppl. 1], 45-56.

1104. Goedde H.S., Altland К. (1971). Suxamethonium sensitivity, Ann. NY Acad. Sei., 179, 670-695.

1105. Goedde H. W., Altland K., Scholler K. L. (1967). Therapie der durch genetisch bedingte Pseudocholinesterase-Varianten verursachten verlängerten Apnoe nach Succinylcholin, Med. Klin., 62, 1631-1635.

1106. Coldschmidt R. B. (1935). Gen und Ausseneigenschaft (Untersuchungen an Drosophila) I. und П. Mitt. Z. Vererbungslehre, 10, 74-98.

1107. Goldstein J.L., Brown M.S. (1977). The lowdensity lipoprotein pathway and its relation to atherosclerosis, Ann. Rev. Biochem., 46, 897-930.

1108. Goldstein J. L., Brown M. S., Stone N. J. (1977). Genetics of the LDL receptor: evidence that the mutations affecting binding and internalization are allelic, Cell, 12, 629-641.

1109. Goldstein J.L., Hazzard W.R., Schrott H. G., Bierman E.L., Motulsky A. G. (1973). Hyperlipidemia in coronary heart disease. П. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, J. Clin. Invest., 54, 1544-1568.

1110. Gorrod J.W., Jenner P., Key sell G.R., MikhaelB.R. (1974). Oxidations metabolism of nicotine by cigarette smokers with cancer of the urinary bladder, J. Natl. Cancer Inst, 52, 1421-1424.

\lll.CrahamJ.B. (1979). Genotype assignment (carrier detection) in the haemophilias. Clin. Haematol., 8, 115-145.

1111 a.Graham J. В., Barrow E. S., Reisner H. M., EdgellC.J.S. (1983). The genetics of blood coagulation, Adv. Hum. Genet., 13, 1-81.

1112. Gralnick H.R., Finlayson J.S. (1972). Congenital dysfibrinogenemias, Ann. Intern. Med., 77, 471-473.

1113. Grant D.M., Tang B.K., Kalow W. (1982). Polymorphic N-acetylation of a caffeine metabolite in man, Clin. Pharmacol. Therap., 33, 355-359.

1114. Griffin J.E., Wilson J.D. (1980). The syndrome of androgen resistance, N. Engl. J. Med., 302, 198-209.

1115. Gropp A., Kolbus l/., Giers D. (19/5). Systematic approach to the study of trisomy in the mouse. П. Cytogenet. Cell Genet., 14, 4262.

1116. Guthrie R., Susi A. (1963). A simple phenylalanine method for detecting phenylketonuria

280 Литература

in large populations of newborns, Pediatrics, 32, 338.

1117. Haldane J.B.S. (1954). The Biochemistry of Genetics, London.

1118. Hanel H.K., Cohn J., Harvald B. (1971). Adenosine-triphosphate deficiency in a family with nonspherocytic anaemia, Hum. Hered., 21, 313-319.

1119. Harper P.S. (1986). Carrier detection in Duchenne muscular dystrophy: a critical assessment, Prog. Med. Genet. N.S.

\\2Q.Harvald В., Hanel H.K., Squires R., TrapJensen J. (1964). Adeuosine-triphosphatase deficiency in patients with nonspherocytic hemolytic anemia, lancet, П, 18.

1121. Herrick J.B. (1910). Peculiar elongated and sickle-shaped red blood corpuscles in a case of severe anemia, Arch. Intern. Med., 6, 517.

H22.Higgs D.R., Hill A.V.S., Michails R., Goodbourn S.E. Y., Ayyub H., Teal H., Clegg J.B., Weatherall D.J. (1985). Molecular rearrangements of the human α-gene cluster, Ann. NY Acad. Sei., 445, 45-56.

1123. Hilschmann N., Kratzin H., Altevogt P., Ruban E., Kortt Α., Staroscik С., Schätz R., Palm W., Barnikol H.-U., Barnikol-Watanabe S., Bertram J., Hörn J., Engelhard M., Schneider M., Dreher W. (1976). Evolutionary origin of antibody specificity. In: Goodman M., Tashian R. E. (eds.), Molecular anthropology, Plenum Press, New York, London, pp. 369-386.

1124. Hilschmann N.. Watanabe S., Barnikol H.U., Laure C. J., Bertram J., Horn J., Engelhard M., Schneider M., Dreker L. (1975). Die Rolle der Evolution im Immunsystem, Nova Acta Leopoldina, 42, 189-222.

1125. Hirsch W., Мех Α., Vogel F. (1967). Metabolie traits in mentally retarded children as compared with normal populations: Phenylalanine and tyrosine in serum and urine, J. Ment. Defic. Res., 11, 212-227.

\\26.Hirschhorn R., Beratis N., Rosen F.S., Parkman R., Stern R., Palmar S. (1975). Adenosine deaminase deficiency in a child diagnosed prenatally, Lancet, I, 73-75.

1127. Hirschhorn R., Martiniuk F., Rosen F. S. (1979). Adenosine deaminase activity in normal tissues and tissues from a child with severe combined immunodeficiency and adenosine deaminase deficiency, Clin. Immunol. Immunopathol., 14, 107-120.

1128. Hirschhorn R., Weissmann G. (1976). Genetic disorders of Lysosomes, Prog. Med. Genet. [New Series], 1, 49-101.

1129. Hoof F. van, Hers H.G. (1964). Ultrastructure of hepatic cells in Hurler's disease (gargoylism), Cr Acad. Sei. [D] (Paris), 259, 1281.

ИЗО. Hörlein H., Weber G. (1948). Über chronische familiäre Methämoglobinämie und eine neue Modifikation des Methämoglobins, Dtsch.. Med. Wochenschr., 72, 476.

1131. Howell R. R. (1972). Genetic disease: The present status of treatment, Hosp. Pract, 7, 75-84.

1132. Howell R.R., Stevenson R.E. (1971). The offspring of phenylketonuric women, Soc. Biol., 18, 519-529.

1133. Howell D.R., Williams J.C. (1983). The glycogen stoarage diseases. In Stanbury et al. (eds.), The metabolis basis of inherited disease, 5th ed., McGraw-Hill, New York etc., pp. 141166.

1134. Hsia D. Y.-Y. (1957). The laboratory detection of hétérozygotes, Am. J. Hum. Genet, 9, 97-116.

1135. Huehns E. R., Dance N., Beaven G. H., Hecht F., Motulsky A. G. (1964). Human embryonic hemoglobins, Cold Spring Harbor Symp. Quant. Biol., 29, 327-331.

me.Huisman T.H.J., Wilson J.B., Gravely M., Hubbard M. (1974). Hemoglobin Grady: The first example of a variant with elongated chains due to an insertion of residues. Proc. Natl. Acad. Sei. USA, 71, 3270-3273.

im.Huisman T.J.H., Wrightstone R.N., Wilson J.B., Schroeder W.A., Kendall A.C. (1972). Hemoglobin Kenya, the product of fusion of γ and β polypeptide chains, Arch. Biochem. Biophys., 153, 850-853.

1138. Ingram V.M. (1956). A specific difference between the globins of normal human and sickle cell anaemia haemoglobin, Nature, 178, 792.

1139. Ingram V. M. (1957). Gene mutations in human haemoglobin: The chemical difference between normal and sickle cell hemoglobin, Nature, 180, 325-328.

1140. Jacob F. (1978). Mouse teratocarcinoma and mouse embryo, The Leuwenhoek lecture 1977, Proc. R. Soc., Lond. [Biol.], 201, 249270.

1141. Jacob F., Monod J. (1961). On the regulation of gene activity, Cold Spring Harbor Symp. Quant. Biol., 26, 193-209.

1142. Jandl J.H., Cooper R.A. (1978). Hereditary Spherocytosis. In: Stanbury J. В., Wyngaarden J. В., Fredrickson D. S. (eds.), The metabolic basis of inherited disease, 4th ed., McGraw-Hill, New York, pp. 1396-1409.

1143. Jeffreys A. J. (1979). DNA sequence variants in Gy-, Αγ-, δ- and β- globin genes of man, Cell, 18, 1.

1144. Jervis G.A. (1953). Phenylpyruvic oligophrenia: Deficiency of phenylalanine oxidizing system, Proc. Soc. Exp. Biol. Med., 82, 514-515.

1145. Jones M.E. (1980). Pyrinidine hucleotide biosynthesis in animals: Genes, enzymes, and regulation of UMP biosynthesis, Ann. Rev. Biochem., 49, 253-279.

1146. Kahn A. (1978). G6PD variants, International Titisee Conference, Titisee, 13-15 October 1977, Hum. Genet. [Suppl. 1], 37-^4.

1147. ΚαΑη Α., Etiemble J., Meienhofer M.C., Boivin P. (1975). Erythrocyte phosphodructokinase deficiency associated with an unstable variant of muscle phosphofructokinase, Clin. Chim. Acta, 61, 415.

1148. Kahn Α., Kaplan J.-C., Dreyfus J.~C. (1979).

Литература 281

Advances in hereditary red cell enzyme anomalies, Hum. Genet, 50, 1-27.

1149. Kahn Α., Marie J., Galand C., Boivin P. (1975). Molecular mechanism of erythrocyte pyruvate kinase deficiency, Hum. Genet., 29, 271-280.

1150. Kalckar H.M. (1957). Biochemical mutations in man and microorganism, Science, 125, 105-108.

1151. Kalow W. (1982). The metabolism of xenobiotics in different populations, Can. J. Physiol. Pharmacol., 60, 1-12.

1152. Kalow W., Staron N. (1957). On distribution and inheritance of human serum cholinesterase, as indicated by dibucaine numbers, Can. J. Biochem., 35, 1305.

1153. Kalter H., Warkany J. (1983). Congenital malformations. Etiologic factors and their role in prevention, N. Engl. J. Med., 308, 424-431.

1154. Kalter H., Warkany J. (1983). Congenital malformations. N. Engl. J. Med. 308, 491-497.

1155. Kamuzora H., Lehmarm H. (1975). Human embryonic haemoglobin including a comparison by homology of the human ε and α chains, Nature, 256, 511-513.

H56a.Kan. Y. W. (1985). Molecular pathology of α-thalassemia, Ann. NY Acad. Sei., 445, 28-35.

1156Ь.*Гал. Y. W, Chang J.C., Poon R. (1979). Nucleotide sequences of the untranslated 5' and У regions of human α- β- and γ-globin mRNAs. In: Stamatoyannopoulos G., Nienhuis A. (eds.), Cellular and molecular regulation of hemoglobin switching. Grune and Stratton, New York, pp. 595-606.

1157. Kan Y. W., Dozy A. M. (1978). Polymorphism of DNA sequence adjacent to the human β globin structural gene, Its relation to the sickle mutation, Proc. Natl. Acad. Sei. USA, 75, 5631-5635.

1158. Kan Y.W., Dozy A.M., Trecartin R., Todd D. (1977). Identification of a non-deletion defect in a-thalassemia, N. Engl. J. Med., 297, 1081-1084.

mi&.Kappas A., Sassa S., Anderson K.E. (1983). The porphyrias. In: Stanbury J. В., Wyngaarden J. В., Fredrickson D. S., Goldstein J. L., Brown M.S. (eds.), The metabolic Basis of inherited Disease, 5th ed., McGraw-Hill, New York.

1159. Kazazian H.H., Cho S., Phillips J.A. Ill (1977). The tational basis of the thalassemia syndromes, Prog. Med. Genet., 2, 165-204.

1160. Kellermann G., hiyten-Kellerman M., ι Shaw С. R. (1973). Gentic variation of aryl

hydrocarbon hydroxylase in human lymphocytes, Am. J. Hum. Genet., 25, 327-331.

1161. Kellermann G., Shaw С. R., hiy ten-Kellerman M. (1973). Aryl hydrocarbon hydroxylase

I inducibility and bronchogenic carcinoma, N.; Engl. J. Med., 289, 934.

1162. Kelley W.N., Greene M.L., Rosenbloom P.M., \ Henderson J. F., Seegmiller J. E. (1969). HudroI xanthine-guanine phosphoribosyl transferase f in gout, Ann. Intern. Med., 70, 155-206. |163. Kelly W.N., Wyngaarden J.B. (1970). Studies

on the purine phosphoribosyltransferase enzymes in fibroblasts from patients with the Lesch-Nyhan syndrome, Clin. Res., 18, 394.

1164. Kelly W.J., Wyngaarden J.B. (1983). Clinical syndromes associated with HPRT deficiency. In: Stanbury J. В., Wyngaarden J. В., Fredrickson D.S., Goldstein J.L., Brown M.S. (eds.), The metabolic basis of inherited disease, 5th ed., McGraw-Hill, New York, pp. 1115-1143.

1165. Kendrew J.C., Dickerson R.E., Strandberg B.E., Hart R.G., Davies D.A, Phillips D.C., Shore V.C. (1960). Structure of myoglobin-a three-dimensional Fourier synthesis at 2 A. Resolution, Nature, 185,422-427.

ll66.Kirkman H.N. (1972). Enzyme defect, Prog.

Med. Genet., 8, 125-168. \\6T.Kirkman H.N., Hendrickson E.M. (1963).

Sex-linked electrophoretic difference in glu-

cose-6-phosphate dehydrogenase, Am. J.

Hum. Genet, 15, 240. \\61&.Knowllon R.G. et al. (1985). A polymorphic

DNA marker linked to cystic fibrosis is

located on chromosome 7, Nature, 318,

380-382.

1168. Knudson A. G., DiFerrante A. Curts F. J. (1971). The effect of Leucocyte transfusion in a child with MPS type I, Proc. Natl. Acad. Sei. USA, 68, 1738-1741.

1169. Knussmann R. (1973). Unterschiede zwischen Mutter-Kind- und Vater-Kind-Korrelationen im Hautleistensystem des Menschen, Hum. Genet, 19, 145-154.

1170. Koch E., Bahn H., Koch F. (1964). Mucoviscidosis, Schattauer, Stuttgart.

1171. Korenberg J., Therman E., Denniston C. (1978). Hot spots and functional organization of human chromosomes, Hum. Genet, 43, 13-22.

1172. Kornberg R. D. (1977). Structure of chromatin, Ann. Rev. Biochem., 46, 931-945.

\\T5.Krangel M.S., Orr H.T., Strominger J.L. (1980). Structure, function and biosynthesis of the major human histocompatibility antigens (HLA-A and HLA-B), Scand. J. Immunol., 11, 561-571.

1174. Kresse H., Cantz M., von Figura K., Glössl J., Paschke E. (1981). The mucopolysaccharidoses: Biochemistry and clinical symptoms, Klin. Wschr., 59, 867-876.

1175. Kresse Α., Nettfeld E. F. (1972). The Sanfilippo A corrective factor. Purification and mode of action, J. Biol. Chem., 247, 2164.

1176. Krone W., Wolf V. (1978). Chromosome and protein variation. In: Brock D. S. H., Mayo O. (eds.), The Biochemical Genetics of Man, 2nd ed., Academic Press, New York, London.

1177. Krooth R.S., Weinberg A.N. (1961). Studies of patients with galactosemia, J. Exp. Med., 133, 1155-1171.

1178. Kühn A. (1961). Grundriss der Vererbungslehre, Quelle and Meyer, Heidelberg.

1179. Kukharenko V.l., Kuliev A.M., Grinberg K.N., Terskikh V.V. (1974). Cell cicles in human diploid and aneuploid strains, Hum. Genet., 24, 285-296.

1180. Kulazenko V.P. (1974). Morphogenetic distur-

Литература

bances in a spontaneous abortus with trisomy, 13 Hum. Genet., 25, 53-59.

1181. Kuliev A.M., Kukharenko V.l., Grinberg K.N., Vasileysky S. S., Terskikh V. V., Stephanova L. G. (1973). Morphological, autoradiographic, immunochemical and cytochemical investigation of a cell strain with trisomy 7 from a spontaneous abortion. Hum. Genet., 17, 285-296.

1182. Kuliev A.M., Kukharenko V.l., Grinberg K.N., Terskikh V. V., Tamarkina A. D., Begomazov Ε. Α., Vasileysky S.S. (1974). Investigation of a cell strain with trisomy 14 from a spontaneously aborted human fetus, Hum. Genet, 21, 1-12.

1183. Kuliev A.M., Kukharenko V.l., Grinberg K.N., Mikhailov А. Т., Tamarkina A.D. (1975). Human triploid cell strain. Phenotype on cellular level, Hum. Genet, 30, 127-134.

1184. Kupfer Α., Preisig R. (1984). Pharmacogenetics of mephenytoin: a new drug hydroxylation polymorphism in man, Eur J. Clin. Pharmacol., 26, 753-759.

1185. Kurnit D.M. (1979). Down syndrome: gene dosage at the transcriptional level in skin fibroblasts, Proc. Natl. Acad. Sei. USA, 76, 2372-2375.

1186. lambert В., Hansson K., Bui Т.Н., F unes - Carvicto F., lindsten J., Holmberg M., Strausmanis R. (1976). DNA repair and frequency of X-ray and u.v.-light induced chromosome. Aberrations in leukocytes from patients with Down's syndrome, Ann. Hum. Genet, 39, 293-302.

1187. Landauer W. (1957). Phenocopies and genotype with special reference to sporadically occurring developmental variants, Am. Naturalist, 91, 79-90.

1188. Lang A., Lorkin P. A. (1976). Genetics of human haemoglibins, Br. Med. Bull., 32, 239-245.

1189. Lawn R.M., Efstratiadis Α., Ο 'Cornell C., Maniatis T. (1980). The nycleotide sequence of the human betaglobin gene, Cell, 21, 647-651.

1190. Layzer R.B., Rowland L. P., Bank W.J. (1969). Physical and kinetic properties of human phosphofructokinase from skeletal muscle and erythrocytes, J. Biol. Chem., 244, 3823.

1191. Layzer R.B., Rowland L.P., Ramey H.M. (1967). Muscle phosphofructokinase deficiency, Arch. Neurol., 17, 512.

1 \9\&.Leder P. (1978). Discontinuous genes, N. Engl. J. Med., 298, 1079-1081.

1192. Leder P. (1982). The genetics of antibody diversity, Sei. Am., 246, 102-115.

1193. Leder P., Tilghman S., Tiemeier D., Kunkel D., Seidman J.G. (1979). The organisation of mouse ß-globin genes. In: Stamatoyannopoulos G., Nienhuis A. (ed.), Cellular and molecular regulation of hemoglobin switching, Grune and Stratton, New York, pp. 493-500.

1194. Lehmann H., Kynoch P.A.M. (1976). Human haemoglobin variants and their characteristics, North-Holland. Amsterdam.

1195. Lehmann H., Ryan £. (1956). The familial incidence of low pseudocholinesterase level, Lancet, II, 124.

1196. Lemke R.R., Levy H.L. (1980). Maternal phenylketonuria and hyperphenylalaninemia: An international survey of the outcome of untreated and treated pregnancies, New England J. Med., 303, 1202.

1197. Leroy J.G. (1983). The oligosaccharidoses (formerly mucolipidoses). In: Emery A.E.H., Rimoin D. L., (eds.), Principles and Practice of Medical Genetics, Vol. 2, Churchill Livingstone, Edinburgh etc., pp. 1348-1365.

1198. Lesch M., Nyhan W.L. (1964). A femilial disorder of uric acid metabolism and central nervous system function, Am. J. Med., 36, 561.

1199. Levin S., Moses S. W., Chayoth R., Jagoda N.. Steinitz K., Levinson G. (1967). Glycogen storage disease in Israel, Isr. J. Med. Sei., 3, 397-410.

1200. Liebhaber S.A., Goossens M.J., Kan Y.W. (1980). Cloning and complete sequence of human 5'-alpha-globin gene, Proc. Natl. Acad. Sei. USA, 77, 7054-7058.

1201. Liebhaber S.A., Rappaport E.F., Cash E.F., Bailas S.K., Schwartz E., Surrey S. (1984). Hb I mutation encoded at both globin loci on the same chromosome: Concerted evolution in the human genome, Science, 226, 1449-1451.

1202. Lison M., Blondheim S.H., Helmed R.N. (1980). A polyporphism of the ability to smell urinary metabolites of asparagus, Br. Med. J., 281, 1676-1678.

1203. Whr G. W. (1969). Genetische Enzymdefekte der Hexokinase und der Transport-AdenosinTriphosphat-Phosphohydrolase der Erythrozyten, Folia Haematol, 91, 28.

1204. Lunde P.K.M., Frislid K., Hansteen V (1977). Disease and acetylation polymorphisc, Clin. Pharmacokia, 2, 182-197.

1205. Lyon W.F., Hawkes S.G. (1970). An X-linked gene for testicular feminization of the mouse, Nature, 227, 1217-1219.

1206. Mabuchi H., Haba T., Veda K., Veda R., Tatami R., Ito S., Kametani T., Koizumi J., Miyamoto S., Ohta M., Takeda R., Takegoshi T., Takeshita H. (1977). Serum lipids and coronary heart disease in heterozygous familial hypercholesterolemia in the Hokuriku district of Japan, Atherosclerosis, 28, 417^423.

1207. Magnuson T., Epstein C.J. (1981). Genetic control of very early mammalian development, Biol. Rev., 56, 369-408.

1208. Mars R. de (1964). Some studies of enzymes in cultivated human cells. In: Metabolic control mechanisms in animal cells, Natl. Cancer Inst. Monogr., 13, 181-193.

1209. Martin G.R., Epstein C.J., Travis В., Tucker G., Yatziv S., Martin D. W., ir., Clift S., Cohen S. (1978). X-chromosome inactivation during differentiation of female teratocarcinoma stem cells in vitro, Nature, 217, 329-333.

1210. Martinez J., Holburn R.R., Shapiro S., Ersley A.J. (1974). Fibrinogen Philadelphia: a hereditary hypodysfibrinogenemia characterized by fibrinogen hypercatabolism, J. Clin. Invest, 53, 600.

1211. May A., Huehns E.R. (1976). The mechanism

Литература 283

and prevention of sideling, Br. Med. Bull., 32, 223-233.

1212. McDevitt H., Bodmer W. (1974). HLA immune-response genes and disease, Lancet, I, 1269-1274.

1213. McLaren A., Simpson E., Tomonari K., Chandler P., Hogg H. (1984). Male sexual differentiation in mice lacking H-Y antigen, Nature, 312, 552-555.

1214. McKee P.A. (1983). Hemostatis and disorders of blood coagulation. In: Stanbury J. В., Wyngaarden J.B., Fredrickson D.S., Goldstein J.L., Brown M.S. (eds.), The metabolic basis of inherited disease, 5th ed., McGrawHill Book Co., New York etc. pp. 15311560.

Ш5. McPherson E., Taylor C.A., Jr. (1982). The genetics of malignant hyperthermia: evidence for heterogeneity, Am. J. Med. Genet., 11, 273-285.

1216. Mears J. G., Ramirez F., Leibowitz D., Nakamura F., Bloom F., Konotey- Ahulu F., Bank A. (1978). Changes in restricted human cellular DNA fragments containing globin gene sequences in thalassemias and related disorders, Proc. Natl. Acad. Sei. USA, 75, 1222-1226.

217. Meyer R. A., Schmid R., (1978). The porphyrias. In: Stanbury J. В., Wyngaarden J. В., Fredrickson D.S. (eds.), The metabolic basis of inherited disease, 4th ed., McGraw-Hill, New York, pp. 1166-1220.

218. Miller M., Opheim K.E., Raisys V.A., Motulsky A.G. (1984). Theophyffine metabolism: variation and genetics, Clin. Pharmacol. Therap., 35, 170-182.

1219. Minder E.I., Meier P.J., Muller H.K., Minder C., Meyer U.A. (1984). Bufuralol metabolism in human liver: a sensitive probe for the debrisoquine-type polymorphism of drug oxidation, Eur. J. Clin. Invest, 14, 184-189.

1220. Morris J. M. (1953). The syndrome о testicular feminization in male pseudohermaphrodites, Am. J. Obstet. Gynecol., 65, 1192.

1221. Moser H. (1984). Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention, Hum. Genet., 66, 17-40.

1222. Motulsky A. G. (1957). Drug reactions, enzymes and biochemical genetics, J. Am. Med., Assoc., 165, 835-837.

1223. Motulsky A. G. (1964). Current concepts of the genetics of the thalassemias, Cold Spring Harbor Symp. Quant. Biol., 29, 399-^13.

1224. Motulsky A.G. (1965). Theoretical and clinical problems of glucose-6-phsphate dehydrogenase deficiency. In:. Jonxis J. P. H. (ed.), Abnormal haemoglobins in Africa, Blackwell, Oxford, pp. 143-196a.

1225. Motulsky A. G. (1972). Hemolysis in gluco! se-6-phosphate dehydrogenase deficiency, Fed.

Proc., 31, 1286-1292.

1226. Motulsky A.G. (1973). Frequency of sickling > disorders in US blacks, N. Engl. J. Med., 288, I 31-33.

|227. Motulsky A.G. (1975). Glucose-6-phosphate

dehydrogenase and abnormal hemoglobin polymorphism-evidence regarding malarial selection. In: Salzano P.M. (ed.), The role of natural selection in human evolution, NorthHolland, Amsterdam, pp. 271-291.

1228. Motulsky A.G. (1977). Ecogenetics: genetic variation in susceptibility to environmental agents, In: Human genetics, Proceedings of the 5th International Congress of Human Genetics, Mexico City, 10-15 October 1976, Excerpta Medica, Amsterdam, pp. 375-385.

1229. Motulsky A.G. (1978). Multifactorial inheritance and heritability in phannacogenetics, International Titisee Conference, Titisee, 13-15 October 1977, Hum. Genet. [Suppl. 1], 7-12.

1230. Motulsky A. G. (1970). Biochemical genetics in hemoglobins and enzymes as a model for birth defect research. In: Frazer F. C, McKusick V. A. (eds.), Congenital malformations, Excerpta Medica, Amsterdam, p. 199.

1231. Mueller R.F., Hornung S., Furlong C.E., Anderson J., Giblett E.R., Motulsky A.G. (1983). Plasma paraoxonase polymorphism: a new enzyme assay, population, family, biochemical, and linkage studies, Am. J. Hum. Genet., 35, 393-^08.

1232. Nagel R.L., Fabry M.E., Pagnier J., Zouhoun I., Wajcman H., Baudin V., labte D. (1985). Hematologically and genetically distinct forms of sickle cell anemia in Africa. The Senegal type and the Benin type, N. Engl. J. Med., 312, 880-884.

1233. Nage R.L., labié D. (1985). The consequences and inplications of the multicentric origin of the Hb S gene. In: Stamatoyannopoulos G., Nienhues A. (eds.), Experimental Approaches for the Study of Hemoglobin Switching, Alan R. Liss, New York, pp. 93-103.

1244. Nance W.E. (1975). Genetic studies of human serum and erythrocyte polymorphism, University of Wisconsin, Ph. D. Dissertation 1967, Quoted in: Harris H., The principles of human biochemical genetics, North-Holland, Amsterdam, pp. 163.

1235. Neben D. W., Goujon F.M., Gielen J.E. (1972). Aryl hydrocarbon hydroxilase induction by polycyclic hydrocarbons: Simple autosomal dominant trait in the mouse, Nature, New Biol., 236, 107.

l235a.Neel J. V. (1949). The inheritance of sickle cell anemia, Science, 110, 64.

1236. NeelJ.V. (1949-1950). The detection of the genetic carriers of hereditary disease, Am. J. Hum. Genet., 1/2, 19-36.

1237. Neel J. V. (1953). The detection of the genetic carriers of inherited disease. In: Sorsby A. (ed.), Clinical genetics, Mosby, St. Louis, p. 27.

1238. Nienhuis A. W., Anagnou N. P., Ley T. J. (1984). Advances in thalassemia research, Blood, 63, 738-757.

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