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Приложение 8. 239 7 страница919. Verschuer O. von (1958). Die Zwillingsforschung im Dienste der inneren Medizin, Verh. Dtsch. Ges. Inn. Med., 64, 262-273. 920. Vogel F. (1969). Does the human X chromosome show evidence for clustering of genes with related functions? J. Genet. Hum., 17, 475-477. 921. Vogel F. (1970). The genetic basis of the normal human electroencephalogram (EEG), Hum. Genet, 10, 91-114. 922. Vogel F. (1957). Methoden zur Prüfung der Reihenfolge von Merkmalsträgern und Gesunden in Geschwisterschaften, Z. Menschl. Vererbungs-Konstitutionslehre, 34, 194-204. 923. Vogel F. (1982). Die Bedeutung der Humangenetik für eine Theorie der Krankheit, Verh. Dtsch. Ges. Path., 66, 1-15. 924. Vogel F., Dorn H. (1964). Erbliche Hautkrankheiten, In: Becker P.E. (ed.), Humangenetik, ein kurzes Handbuch, Vol. IV, Thieme, Stuttgart, pp. 346-535. 925. Vogel F., Kruger J. (1967). Multifactorial determination of genetic affections, Proceedings of the 3rd International Congress of Human Genetics, Johns Hopkins University Press, Baltimore, pp. 437-445. 274 Литература 926. Vogel F., Wendt G.G. (1956). Zwillingsuntersuchung über die Erblichkeit einiger ahthropologischer Masse und Konstituonsindices, Z. Menschl. Vererbungs-Konstitutionslehre, 33, 425446. 927. Waardenburg P.J. (1957). The twin study method in wider perspective, Acta Genet. (Basel), 7, 10-20. 928. Waarneburg P.J. (1953). Zum Kapitel des ausserokularen erblichen Nystagmus, Acta Genet. (Basel), 4, 298-312. 929. WahlundS. (1928). Zusammensetzung von Populationen und Korrelationserscheinungen vom Standpunkt der Vererbungslehre aus betrachtet, Hereditas, 11, 65-105. 930. Walter H. Ü976). Körperbauform und Klima. Kritische Überlegungen zur Übertragbarkeit der Bergmann'schen Regel auf den Menschen, Z. Morphol. Anthropol, 67, 241-263. 931. Watkins Winifred M. (1966). Blood-group substances, Science, 152, 172-181. 932. Weicher H. (1959). Die genetischen Grundlagen der Fanconi-Anamie, Schweiz. Med. Wochenschr., 89, 1081. 933. Weight M., Cortese C., Sule U., Miller N. E., Lewis B. (1982). Heritability of the low density lipoprotein receptor activity of human blood mononuclear cells: studies in normolipidaemic adult male twins, Clin. Sei., 62, 397-401. 934. Weinberg W. (1902). Beitrage zur Physiologie und Pathologie der Mehrlingsgeburten beim Menschen und Probleme der Mehrlingsgebur tenstatistik, Z. Geburtshilfe Gynakol., 47, 12. 935. Weinberg W. (1909). Der Einfluss von Alter und Geburtenzahl der Mutter auf die Häufigkeit der ein- und zweieiigen Zwillingsgeburten, Z. Geburtshilfe Gynakol., 65, 318-324. 936. Weinberg W. (1912). Methoden und Fehlerquellen der Untersuchung auf Mendelsche Zahlen beim Menschen, Arch. Rassenbiol., 9,165-174. 937. Weiner W., Lewis H. B. M., Moores P., Sanger R., Race R. R. (1957). A gene, y, modifying the blood group antigen A, Vox Sang., 2, 25-37. 938. Weiss M. C., Green H. (1967). Human-mouse hybrid cell lines containing partial complements of human chromosomes and functioning human genes, Proc. Natl. Acad. Sei. USA, 58, 1104-1111. 939. Weitkamp L. R. (1972). Human autosomal linkage groups. Proceedings of the 4th International Congress of Human Genetics, Paris, 1971, Excerpta Medica, Amsterdam, pp. 445460. 940. Welander L. (1957). Homozygous appearance of distal myopathy, Acta Genet. (Basel), 7, 321325. 941. Wendt G.G., Drohm D. (1972). Fortschritte der Allgemeinen und Klinischen Humangenetik, Vol. IV, Die Huntingtonsche Chorea, Thieme, Stuttgart. 942. Werdelin O. (1982). Immune response genes, Allergy, 37, 451-461. 943. Wettke-Schäfer R., Kantner G. (1983). X-linked dominant inherited diseases with lethality in hemizygous males, Hum. Genet, 64, 1-23. 944. White R., Leppert M., Bishop D. T., Barker D., Berkowitz J., Brown C., Callahan P., Holm T., Jerominski L. (1985). Construction of linkage maps with DNA markers for human chromosomes, Nature, 313, 101-105. 945. White R. (1985). Mapping human chromosomes in genetic diseases. First Intrn. Symp. on the Role of Recombinant DNA in Genetics (Teplitz R. L. et al, eds.), Crete (In the press, 1986). 946. White R., Leppard M., Bishop D. T., Barker D., Berkowitz J., Brown C., Callahan R., Holm T., Jerominski L. (1985). Constitution of linkage maps with DNA markers for human chromosomes, Nature, 313, 101-105. 947. Whittingham S., Mathews J. D., Schanfleld M. S., Tait B.D., Mackay l.R. (1981). Interaction of HLA and Gm in autoimmune chronic active hepatitis, Clin. Exp. Immunol., 43, 80-86. 948. Wieland W. (1975). Diagnose. Überlegungen zur Medizintheorie, De Gruyter, Berlin, New York. 949. Wieland W. (1983). Systematische Bemerkungen zum Diagnosebegriff, Münstersche Beiträge zur Geschichte und Theorie der Medizin, 20, 17-34. 950. Wiener A. S. (1943). Additional variants of the Rh type demonstable with a special human anti-Rh-serum, J. Immunol., 47, 461-465. 951. Wiener A. S. (1941). Hemolytic reactions following transfusion of blood of the homologous group II, Arch. Pathol., 32, 227-250. 952. Wiener A.S., di Diego N.. Sokol S. (1953). Studies on the heredity of the human blood groups, I. The MN type, Acta Genet. Med. Gemellol. (Rome), 2, 391-398. 953. Williams D. L. (1985). Molecular biology in arteriosclerosis research. Arteriosclerosis, 5, 213227. 954. Williams W. R., LalouelJ.M. (1982). Complex segregation analysis of hyperlipidemia in a Seattle sample, Hum. Hered., 32, 24-26. 955. Wilson S. R. (1973). The correlation between relatives under the multifactorial model with assortative mating I. The multifactorial model with assortative mating I. The multifactorial model with assortative matting, Ann. Hum. Genet., 37, 189-204. 956. Wilson S.R. (1973). The correlation between relatives under the multifactorial model with assortative mating. II. The correlation between relatives in the equilibrium position, Ann. Hum. Genet., 37, 205-215. 957. Winter B.M., Marsh W.L., Taswell H.F., Galey W.R. (1977). Haemological changes associated with the McLeod phenotype of the Kell blood group system, Br. J. Haematol., 36, 219. 958. Winters R. W., Graham J. В., Williams T. F., McFalls V.C., Burnett C.H. (1957). A genetic study of familial hypophosphatemia and vitamin D-resistant rickets, Trans. Assoc. Am. Physicians., 70, 234-242.
959. Woolf В. (1955). On estimating the relation between blood group and disease, Ann. Hum. Genet., 19, 251-253. 960. Wright S. (1934). The results of crosses between Литература 275 inbred strains of guinea pigs differing in number of digits, Genetics, 19, 537-551. 961. Wright S. (1931). Evolution in Mendelian populations, Genetics, 16, 97-159. 962. Yasuda N., Tsuji K. (1975). A counting method of maximum likelihood for estimating haplotype frequency in the HL-A system, Jap. J. Hum. Genet, 20, 1. 963. Yee S., Lew R., Morton N.E. (1969). A general program for segregation analysis. In: Morton N. E. (éd.), A genetics program Library, The Univ. of Hawaii Press, Honolulu. 964. Yokoyama S. (1985). DNA polymorphism and the susceptibility to diabetes, Am. J. Med. Genet., 21, 649-654. Литература к главе 4 965. AgarwalD.P., Goedde H.W. (1984). Alkoholmetabolisierende Enzyme: Alkoholunverträglichkeit und Alkoholkrankheit. In: Zang K. D, (ed.), Klinische Genetik des Alkoholismus, Verlag W. Kohlhammer, Stuttgart, pp. 65-89. 966. Alter B. P. (1985). Antenatal diagnosis of thalassemia: a review, Ann. NY Acad. Sei., 445, 393-407. 967. Alter В. P., Nathan D. G. (1978). Antenatal diagnosis of haematological disorders-"1978", Clin. Haematol., 7, 195-216. 968. Amara S. G., Jonas V., Rosenfeld M. G., Ong E. S., Evans R. M. (1982). Alternative RNA processing in calcitonin gene expression generates mRNAs encoding different polypeptide products, Nature, 298, 240-244. %%a.AmrheimJ.A., Meyer W.J. Ill, Jones H. W., Migeon C.J. (1976). Androgen insensitivity in man: Evidence for genetic heterogeneity, Proc. Natl. Acad. Sei. USA, 73, 891-894. 969. Anonymous (1973). Pharmacogenetics, Report of a WHO scientific group, WHO technical Report Series N, 524, Geneva. 970. Anonymous (1978). Editorial: Fetal haemoglobin in sickle-cell anaemia and thalassemia-a clue to therapy? Lancet, 1, 971-972. 971. Anonymous (1984). Report on the Workshop "Molecular Basis of Polymorphic Drug Oxidation in Man", Otzenhausen, 1983, Eur. J. Clin. Pharmacol., 27, 253-257. 972. Antonarakis S. E., Kazazian H. H., Jr., Orkin S. H. (1985). DNA polymorphism and molecular pathology of the human globin gene clusters, Hum. Genet., 69, 1-14. 973. Anton-Lamprecht I., Schnyder U. W. (1974). Ultrastructure of inborn errors of keratinization. VI. Inherited ichthyoses~a model system for heterogeneities in Keratinization disturbances, Arch. Dermatol. Forsch., 250, 207227. 974. Anton-Lamprecht I., Hashimoto I. (1976). Epidermolysis bullosa dystrophica dominans (Pasini)- A primary structural defect of the anchoring fibrils, Hum. Genet, 32, 69-76. 975. Atlas S. A., Vesell E. S., Neben D. W. (1976). Genetic control of interindividual variations in the inducibility of aryl hydrocarbon hydroxylase in cultured human lymphocytes, Cancer Res., 36, 4619. 976. Ayesh R., Idle J.R., Ritchie J. C., Crothers M.J., Hetzel M. R. (1984). Metabolic oxidation phenotypes as markers for susceptibility to lung cancer, Nature, 312, 169-170. 977. Bach G., Friedman R., Weissman B., Neufeld E. F. (1972). The defect in the Hurler and Scheie syndromes: deficiency of α-L-iduronidase, Proc. Natl. Acad. Sei. USA, 69, 2048. 978. Bangham A. D. (1968). Membrane models with phospholipids, Progr. Biophys., 18, 29-95. 979. Bank A. (1978). Critical review. The thalassemia syndromes, Blood, 51, 369-384. 980. Bank A., Mears J.G., Ramirez F. (1979). Organization of the human globin genes in normal and thalassemia cells. In: Stamatoyannopoulos G., Nienhuis A. (eds.), Cellular and molecular regulation of hemoglobin switching, Grune and Stratton, New York, pp. 521-539. 981. Baralle F.E., Shoulders С.С., Proudfoot N.J. (1980). The primary structure of the human epsilon-globin gene, Cell, 21, 621-626. 982. Barranger i.A. (1984). Marrow transplantation in genetic disease, N. Engl. J. Med., 311, 1629-1631. 983. Bartoldi F., Giovenco S., Sostia W., Maiconi W., Morisi F., Pittalis P., Prospen G., Spotorno G. (1977). Biomédical application of fibre entrapped enzymes, Pharmacol. Res. Comm., 9, 521-546. 984. Bartholomé K., Lutz P., Bickel H. (1975). Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia, Pediatr. Res., 9, 899903. 985. Bauknecht T. (1977). Studies on steroid hormone receptors (5a-Dihydrotestosterone, Estradiol, and Dexamethasone) in cultured human fibroblasts and amniotic fluid cells, Hum. Genet, 39, 321-328. 986. Beadle G. W. (1945). Biochemical genetics, Chem. Rev., 37, 15-96. 987. Beadle G. W., Ephrussi B. (1936). The differentiation of eye pigment in drosophila as studied by transplantations, Genetics, 21, 225-247. 988. Beadle G. W., TatumE.L. (1941). Genetic control of biochemical reactions in neurospora, Proc. Natl. Acad. Sei. USA, 27, 499-506. 989. Beauchamp G. K., Yamazaki K., Boyse E. A. (1985). The chemosensory recognition of genetic individuality, Sei. Am., 253, 86-92. 990. Becker M. A., Kostet P. J., Meyer L.J., SeegmillerJ.E. (1973). Human phosphoribosylpyrophosphate synthetase: increased enzyme specific activity in a family witch gout and excessive purine synthesis, Proc. Natl. Acad. Sei. USA, 70, 2749. 991. Beet E.A. (1949). The genetics of the sickle cell trait in a Bantu tribe, Ann. Eugen, 14, 279. 992. Bellingham A. J. (1976). Haemoglobins with altered oxygen affinity, Br. Med. Bull., 32, 234-238. 993. Benöhr H. Chr., Waller H.D. (1973). Eigenschaf- 276 Литература ten der Glutathionreductase von Erythrocyten Gesunder und Enzymmangelträger, Klin. Wochenschr., 51, 1177. 994. Benöhr H.C., Waller H. D. (1975). Metabolism in haemolytic states, Clin. Haematol., 4, 45-62. 995. Bercroft D.M., Phillips L.l. (1965). Hereditary orotic aciduria and megaloblastic anemia: A second case with response to undine, Br. Med. J., 1, 547. 996. Betke K., Beutler E., Brewer G.J., Kirkman H. N., Luzzato L., Motulsky A. G., Ramot В., Siniscalco M. (1967). Standardization of procedures for the study of glucose-6-phosphate dehydrogenase, WHO Tech. Rep. Ser., No 366. 997. Beutler E. (1969). Glutathione reductase stimulation in normal subjects by ribiflavin supplementation, J. Clin. Invest., 48, 1957. 998. Beutler E. (1969). Effect of flavin compounds on glutathione reductase activity: in vivo and in vitro studies, J. Clin. Invest., 48, 1957-1966. 999. Beutler E. (1969). G-6-PD activity of individual erythrocytes and X-chromosomal inactivation. In: Yunis J. J. (ed.), Biochemical methods in red cell genetics, Academic Press, New York, pp. 95-113. 1000. Beutler E. (1975). Red cell metabolism. A manual of biochemical methods, Grune and Stratton, New York, London. 1001. Beutler E. (1978). Hemolytic anemia in disor- ders of red cell metabolism, Plenum, New York, London. 1002. Beutler E. (1983). Glucose-6-phosphate dehy- drogenase deficiency. In: Stanbury J. В., Wyngaarden J. В., Fredrickson D. S., Goldstein J., Brown M. (eds.), The metabolic basis of inherited disease, 5th ed., McGraw-Hill, New York, pp. 1629-1653. 1003. Beutler E. (1979). Review: Red cell enzyme defects as nondiseases and as diseases, Blood, 54 1-7. 1004. Bickel H. (1953). Influence of phenylalanine intake on phenylketonuria, Lancet, П, 812. 1005. Blende U. (1981). Glucole-6-phosphate dehy- drogenase deficiency, Clin. Haematol., 10, 785-799. 1006. Bird A. P. (1984). DNA methylation-how im- portant in gene control? Nature, 307, 503504. 1007. Blombäck M., Blombäck B., Mammen E.F., Prasad A.S. (1968). Fibrinogen Detroit-a molecular defect in the N-terminal disulphide knot of human fibrinogen? Nature, 218, 134. 1008. Blyumina M. G. (1981). Blood serum pheny- lalanine level in hétérozygotes for the phenylketonuria gene under conditions of intensified protein catabolism, Genetika (Moskva), 17, 910-914. 1009. Boivin P., Gerland С. (1965). La synthèse du glutathion au cours de l'anémie hemolytique congénitale avec déficit en glutathion réduit, Deficit congenital en glutathion-synthetase erytrocytaire? Nouv. Rev. Er. Hematol., 5, 606. 1010. BorthwellT.H., Chariten R.W., Motulsky A.G. (1983). Idiopathic hemochromatosis. In: Stan- bury 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. 1269-1298. 1011. Boue J., Boue A., Philippe E., Giraud A., De- luchat C. (1973). Phenotypes of karyotyped abortuses, Bull. Eur. Soc. Hum. Genet, 32. 1012. Boyer S. H., Dover G. J., Serjeant G. R., Smith K. D., Antonarakis S. E., Embury S. H., Margolet L., Noyes A. N., Boyer M. L., Bios W.B. (1984). Production of F cells in sickle cell anemia: regulation by a genetic locus or loci separate from the ß-globin gene cluster, Blood, 64, 1053-1058. 1013. Boyer S.H., Rucknagel D. L., Weatherall D.J., Watson-Williams E. J. (1963). Further evidem for linkage between the β and δ loci governing human hemoglobins and the population dynamics of linked genes, Am. J. Hum. Genet, 15, 438-448. 1014. Bradley T. B., Boyer S. H., Allen F. H. (1961). Hopkins-2-hemoglobin: a revised pedigree with data on blood and serum groups, Bull. Johns Hopkins Hosp., 108, 75-79. 1015. Brady R.D.. Koloday E.H. (1973). Disorders of ganglioside metabolism, Prog. Med. Genet, 8, 225-242. 1016. Braunitzer G., Hüschmann N., Rudioff V., HU- se K., Liebold B., Müller R. (1961). The haemoglobin particles. Chemical and genetic aspects of their structure, Nature, 190, 480. 1017. Brewer G.J. (1971). Annotation: Human eco- logy, an expanding role for the human geneticist. Am. J. Hum. Genet., 23, 92-94. 1018. Brewer G.J. (1980). Inherited erythrocyte metabolic and membrane disorders, Med. Clin. North America, 64, 579-596. 1019. Britten R.J., Davidson E.H. (1969). Gene regu- lation for higher cells. A theory, Science, 165, 349-357. 1020. Brass K., Dittes H., Krone W., Schmid M., Vogel W. (1973). Biochemical and cytogenetic studies on the nucleolus organizing regions (NOR) of man. I. Comparison of trisomy 21 with balanced translocations t(DqGq), Hum. Genet, 20, 223-229. 1021. Brass K., Krone W. (1972). On the number of ribosomal RNA genes in man, Hum. Genet, 14, 137. 1022. Brass K., Krone W. (1973). Ribosomal cistrons and acrocentric chromosomes in man, Hum. Genet, 18, 71-75. 1023. Brown M.S., Goldstein J.L. (1974). Expression of the familial hypercholesterolemia gene in hétérozygotes: mechanism for a dominant disorder in man, Science, 185, 61-63. 1024. Buckley R. H., Gilbertsen R. B., Schiff R. L, Ferreira E., Sanal S.O., Waldmann T.A. (1976). Heterogeneity of lymphocyte subpppulations in severe combined immunodeficiency: evidence against a stem cell defect, J. Clin. Invest., 58, 130-136. 1025. Burke B.E., Shotton D.M. (1983). Erythrocyte membrane skeleton abnormalities in heredita- Литература 277 гу spherocytosis, Br. J. Haematol., 54, 173187. №6.BurkiK., Liebelt A. G., Bresnick E. (19J5). Simple vs. complex inheritance of inducible aryl hydrocarbon hydroxylase in mouse tissues, Biochem. Genet., 13, 417-433. 1027. Butenandt A. (1953). Biochemie der Gene und Genwirkungen, Naturwissenschaften, 40, 91-100. 1028. Butterflield D. A., Chesnut D. B., Roses D., Appel S. H. (1974). Electron spin resonance studies of erythrocytes from patients with myotonic muscular dystrophy, Proc. Natl. Acad. Sei. USA, 71, 909 913. 1029. Cantz M., Gehler J. (1976). The mucopolysaccharidoses: Inborn errors of glycosaminoglycan catabolism, Hum. Genet., 32, 233-255. 1030. Carson P.E., Flanagan C.L., Ickes C.E., Alving A.S. (1956). Enzymatic deficiency in primaquine-sensitive erythrocytes, Science, 124, 484-485. 1031. Cassimos C., Malaka-Zeflriu K., Tsiures J. (1974). Variations in salycilamide glucuronide formation in normal and in G-6-PD deficient children, J. Pediatr., 84, 110-111. [032. Chandley A. C. (1981). The chromosomal basis of human infertility, Brit. Med. Bull., 35. 181-186. 1033. Chakravarti A., Buetow K. H., Antonarakis S.E., Waber P.O., Boehm C.D., Kazazian H.H. (1984). Nonuniform recombination within the human ß-globin cluster, Am. J. Hum. Genet., 36, 1239-1258. 1034. Childs В., Zinkham W. (1958). A genetic study of a defect in glutathione metabolism of the erythrocyte, Johns Hopkins Med. J., 102, 21-37. 1035. Cleaver J. E. (1972). Xeroderma pigmentosum: Variants with normal DNA repair and normal sensitivity to ultraviolet light, J. Invest. DermatoL, 58, 124-128. 1036. Cleaver J. E., Bootsma D.(1975). Xeroderma Pigmentosum: Biochemical and Genetic Characteristics, Ann. Rev. Genet., 9, 1938. 1037. Clegg J.B., Weatherall D.J. (1976). Molecular basis of thalassaemia, Br. Med. Bull., 32, 262-269. 1038. Cleve H. (1981). H.-Y. antigen and sex determination. The Tenth Arne Tiselius Memorial lecture. In: Peelers H. (éd.), Protides of the biological fluids, Vol. 29, Pergamon Press, Oxford, New York, pp. 3-12. 1039. Cohen A.S. (1972). Inherited systemic amyloidosis. In: Stanbury J. В., Wyngaarden J. В., Fredrickson D. S. (eds.), The metabolic basis of inherited disease, 3rd ed., McGraw-Hill, New York, pp. 1273-1294. 1040. Collins F. S., Metherall J. E., Yamakawa M., Pan J., Weissman S. M., Forget B. G. (1985). A point mutation in the Αγ-globin gene promoter in Greek hereditary persistence of fetal haemoglobin, Nature, 313, 325-326. 1041. Collins F.S., Weissman S. M. (1984). The Molecular Genetics of Human Hemoglobins, Proc. Nucleic Acid Res. Mol. Biol., 31, 315462. 1042. Comings D. E. (1972). The structure and function of chromatin, Adv. Hum. Genet, 3, 237-431. 1043. Conner B.J., Reyes A.A., Morin C., Itakura K., Tepliz R.L., Wallace R.B. (1983). Detection of sickle ßs-globin allele by hybridization with synthetic oligonucleotides, Proc. Natl. Acad. Sei. USA, 80, 278. 1044. Cori G.T., CoriC.F. (1952). Glucose-6-phosphatase of the liver in glycogen storage disease, J. Biol. Chem., 199, 661. 1045. Costa T., Scriver C.R., Childs B. (1985). The effect of Mendelian disease on human health: a measurement, Am. J. Med. Genet., 21, 231-242. 1046. Cotte J., Kissin C., Mathieu M., Poncet J., Monnet P., Salle В., German D. (1968). Observations on a case of partial deficiency of erythrocyte ATPase, Rev, Fr. Etudes Clin. Biol., 13, 284. 1047. Courtney M., Jaliat S., Tessier L.-H. Benavente A., Crystal R.G., lecocg J.-P. (1985). Synthesis in E. coli of сц-antitrypsin variants of therapeutic potential for emphysema and thrombosis, Nature, 313, 149-151. 1048. Cox R.P., Krauss M.R., Balis U.E., Danois J. (1970). Evidence for transfer of enzyme product as the basis of metabolic cooperation between tissue culture fibroblasts of LeschNychan disease and normal cells, Proc. Natl. Acad. Sei. USA, 67, 1573-1579. 1049. Dacie J.V., Mollison P.L., Richardson N., Selwyn J.G., Shapiro L. (1953). Atypical congenital haemolytic anemia, Q.J. Med., 22, 79. 1050. Dayer P., Balant L., Fahre J. (1984). The genetic control of drug oxidation in the liver, Internat. J. Chin. Pharmacol., 3, 421-425. 1051. Dayer P., Balant L., Kupfer Α., Courvoisier F., Fahre J. (1983). Contribution of the genetic status of oxidative metabolism to variability in the plasma concentrations of beta-adrenergic blocking agents, Eur. J. Clin. Pharmacol., 24, 787-799. 1052. Dean M. F., Muir H., Benson P. F., Button L. R., Boylston A., Mowbray J. (1976). Enzyme replacement therapy by fibroblast transplantation in a case of Hunter syndrome, Nature, 261, 323-326. 1053. De Bruyn C.H.M.M. (1976). HypoxanthineGuanine phosphoribosyl transferase deficiency, Hum. Genet, 31, 127-150. 1054. Diesseroth A., Nienhuis A., lawrence J., Giles R., Turner P., Ruddle F.H. (1978). Chromosomal localization on human β globin gene on human chromosome 11 in somatic cell hybrids, Proc. Natl. Acad. Sei. USA, 75, 1457-1460. 1055. Diesseroth A., Nienhuis A., Turner P., Vêlez R., Anderson W.F., Ruddle F., Lawrence J., Creagan R., Kucherlapati R. (1977). Localization of the human α-globin structural gene to chromosome 16 in somatic cell hybrids by Литература molecular hybridization assay, Cell, 12, 205-218. 1056. Desnick R. J. (1979). Prospects for enzyme therapy in the lysosomal storage diseases of Ashkenazi Jews, pp. 253-270. In: Goodman R. M., Motulsky A. G. (eds.), Genetic diseases among Ashkenazi Jews, Raven Press, New York. 1057. Desnick R.J. (ed.) (1980). Enzyme therapy in genetic diseases, A Liss, New York. 1058. Desnick R.J., Grabowski G.A. (1981). Advances in the theatment of inherited metabolic diseases, Adv. Hum. Genet, 11, 281-369. 1059. Dicke W.K., Weijers H.A., van de Kamer J.H. (1953). Coeliac disease: the presence in wheat of a factor having a deleterious effect in cases of coeliac disease, Acta Paediatr., 42, 34—42. 1060. Diebold K., Hafner H., Vogel F., Schalt E. (1968). Die myoklonischen Varianten der familiären amaurotischen Idiotie, Hum. Genet, 5, 119-164. 1061. Dûtes H., Krone W., Brass K., Schmid M., Vogel W. (1975). Biochemical and cytogenetic studies on the nucleolus organizing regions (NOR) of man. IL A family with the 15-21 translocation, Hum. Genet, 26, 47-59. 1062. Drayer D.E., Reidenberg M.M. (1977). Clinical consequences of polimorphic acetylation of basic drugs, Clin. Pharmacol. Ther., 22, 251-258. 1063. Dugaiczyk A., Woo S.L.C., lai E.G., Mace M.L. jr., McReynolds L., O'Malley B.W. (1978). The natural ovalbumin gene contains seven intervening sequences, Nature, 274, 328-333. 1064. Edwards Ύ.Η., Hopkinson D.A., Harris H. (1971). Inherited variants of human nucleoside phosphorylase, Ann. Hum. Genet, 34, 395-408. 1065. Eichelbaum M., Bertihson L., Sawe J., Zekorn C. (1982). Polymorphic oxidation of spatreine and debrisoquine: related pharmacogenetic entities, Clin. Pharmacol. Therap., 31, 184-186. 1066. Elston R.C., Graham J.B., Miller C.H., Reisner H. M., Войта В. M. (1976). Probabilistic classification of hemopholia A carriers by discriminant analysis, Thromb. Res., 8, 683-695. 1067. Emery A.E.H. (1980). Duchenne muscular dystrophy. Genetic aspects, carrier detection and antenatal diagnosis, Br. Med. Bull, 36, 117-122. 1068. Emery A. E. H., Anand R., Danford N., Duncan W., Paton L. (1978). Aryl-hydrocarbonhydroxylase inducibility in patients with cancer, Lancet, I, 470-472. 1068a.£n0e/ W. (1982). Geschlechtsdifferehzierung und ihre Störungen, Verh. Dtsch. Ges. Path, 66, 329-343. 1069. Epstein C.J. (1977). Inferring from modes of inheritance to the mechanisms of genetic disease. In: Rowland L. P. (ed.), Pathogenesis of human muscular dystrophies, Excerpta Medica, Amsterdam, pp. 9-22.
1070. Epstein C.J. (1985). Mouse monosomies and trisomies as axperimental systems for studying mammalian aneuploidy, TIG, 1, 129-134. 1071. Evans D.A.P. (1986). Pharmacogenetics. In: King R. A., Rotter J. I., Motulsky A. G. (eds.), The Genetic Basis of Common Disease, McGrawHill, New York (in press). 1072. Evans D.A.P., Harmer D., Downham D. Y, Whibley E.J., Idle J.R., Ritchie J., Smith R.L. (1983). The genetic control of sparteine and debrisoquine metabolism in man with new methods of analysing bimodal distribution, J. Med. Genet, 20, 321-329. 1073. Evans D.A.P., Manley K., McKusick V.A. (1960). Genetic control of isoniazid metabolism in man, Br. Med. J., H, 485. 1074. Evans H. J. (1977). Facts and fancies relating to chromosome structure in man, Adv. Hum. Genet, 8, 347-438. 1075. Filip D.J., Eckstein J.D., Veitkamp J.J. (1976). Hereditary antithrombin ΠΙ deficiency and thromboembolic disease, Am. J. HematoL, 2, 343-349. 1076. Fisch R.O., Simes L.K., Torres F., Anderson J.A. (1965). Studies on families of phenylketonurics, Am. J. Dis. Child., 109, 427-431. 1077. Platz G. (1971). Population study of erythrocyte glutathione reductase activity. П. Hematological data of subjects with low enzyme activity and stimulation characteristics in their families, Hum. Genet, 11, 278-285. 1078. Platz. G. (1971). Population study of erythrocyte glutathione reductase activity. I. Stimulation of the enzyme by flavin adenine dinucleotide and by riboflavin substitution, Hum. Genet, 11, 269-277. 1079. Platz G., Xirotiris N. (1976). Glucose-6-phosphat-Dehydrogenase. In: Becker P. E. (ed.), Humangenetik, ein kurzes Handbuch, Vol. 1/3, Thieme, Stuttgart, pp. 495-535. 1080. Polling A. (1934). Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillität, Hoppe Seylers Z. Physiol. Chem., 227, 169. 1081. Forbes G.B. (1953). Glycogen storage disease, J. Pediatr., 42, 645. Дата добавления: 2015-12-16 | Просмотры: 410 | Нарушение авторских прав |