Добавил:
Upload Опубликованный материал нарушает ваши авторские права? Сообщите нам.
Вуз: Предмет: Файл:
Пер с 3.doc
Скачиваний:
2
Добавлен:
01.04.2025
Размер:
7.8 Mб
Скачать

286 Литература

  1. Sloan T. P., Mahgoub Α., Lancaster R., Idle J.R., Smith R. L. (1978). Polymorphism of carbon oxidation of drugs and clinical implications, Br. Med. J., 2, 655-657.

  2. Sly W.S., Achard D. T., Kaplan A. (1977). Correction of enzyme deficient fibroblasts: Evidence for a new type of pinocytosis receptor which mediates uptake of lysosomal enzymes, (Abstract) Clin. Res., 25, 471A.

  3. Smithies O. (1955). Grouped variations in the occurence of new protein components in normal human serum, Nature, 175, 307-308.

  4. Smithies 0. (1955). Zone electrophoresis in starch gels: Group variations in the serum proteins of normal human adults, Biochem. J., 61, 629-641.

  5. Spencer N., Hopkinson D.A., Harris H. (1968). Adenosine deaminase polymorphism in man, Ann. Hum. Genet, 32, 9-14.

  6. Sperling O., Boer P., Eilam G., de Vries A. (1972). Evidence for molecular alteration of erythrocyte hypoxanthine-guanine phosphoribosyl transferase in a gouty family with partial deficiency of the enzyme, Rev. Eur. Etudes Clin. Biol., 17, 72-75.

  7. Spielberg S.P., Gordon G.B., Blake D.A., Goldstein D. A., Herlong H.F. (1981). Predisposition to phenytoin hepatotoxicity assessed in vitro, N. Engl. J. Med., 305, 722-727.

  8. Spranger J. (1972). The systemic mucopolysaccharidoses, Ergeb. Inn. Med. Kinderheilk [NF], 32, 165.

  9. Spranger J. (1983). The mucopolysaccharidoses. In: Emery A. E. H., Rimoin D. L. (eds.), Principles and Practice of Medical Genetics, Churchill Livingstone, Edinburgh, pp. 13391347.

  10. Spritz R. Α., DeRielJ.K., Forget B. G., WeissmanS.M. (1980). Complete nucleotide sequence of the human delta-globin gene, Cell, 21, 639-646.

  11. Suskind S.R., Yanofsky C., Bonner D.M. (1955). Allelic strains of neurpspora lacking tryptophan synthetase: A preliminary immunochemical characterization, Proc. Natl. Acad. Sei USA 41 577

  12. Swift M.,' Chase Ch. (1979). Cancer in farmlies with Xeroderma pigmentosum, J. Natl. Cancer Inst., 62, 1415-1421.

  13. SchmidC., Deininger P.L. (1975). Sequence organization of the human genome, Cell, 6, 345-358.

  14. Schnyder U. W. (1976). Hereditäre Epidermolysen: Klassifikation, Erbprognose und Therapie, Fortschr. Prakt. Dermatol., 8, 1-8.

  15. Schroeder W.A., Huisman T.H.J. (1978). Human gamma chains: structural features. In: Stamatoyannopoulos G., Nienhuis A. (eds.), Cellular and molecular regulation of hemoglobin switching, Grane and Stratton, New York, pp. 29-45.

  16. Stamatoyannopoulos G. (1972). The molecular basis of hemoglobin disease, Ann. Rev. Genet., 6,47.

  17. Stamatoyannopoulos G., Nienhuis A. W. (eds.)

(1985). Experimental Approaches for the Study of Hemoglobin Switching, Alan. R. Liss, New York.

  1. Steinheider G., Melderis H., Ostertag W. (1975). Embryonic ε chains of mice and rabbits, Nature, 275, 714-716.

  2. Stokes P. L., Asquith P., Cooke W.T. (1973). Genetics of coeliac disease, Clin. Gastroenterol., 2, 547-556.

  3. Studencki A.B., Conner B.J., ImpraimC.C, Teplitz R.L., Wallace R.B. (1985). Discrimination among the human ßA, ßs and ßc-globin genes using allelespecific oligonucleotide hybridization probes, Am. J. Hum. Genet., 37, 42-51.

l324a.Takizawa T., Huang I.-Y., Ikuta T., Yoshida A. (1986). Human glucose-6-phosphate dehydrogenase: primary structure and cDNA cloning, Proc. Natl. Acad. Sei. USA, in press.

  1. Taliaferro W.H., Huck J. G. (1923). The inheritance of sickle cell anaemia in man, Genetics, 8, 594.

  2. Tang B.K., Grant D.M., Kalow W. (1983). Isolation and identification of 5-acetylamino-6-formylamino-3-methyluracil as a major metabolite of caffeine in man, Drug Metab. Dispos., 11, 218-220.

  3. Tarni S., Kono N.. Nasu T., Nishikawa M. (1969). Enzymatic basis for the coexistence of myopathy and hemolytic disease in inherited muscle phosphofructokinase deficiency, Biochem. Biophys. Res, Commun., 34, 77.

  4. Thalhammer О., Havelec L., Knoll E., Wehte E. (1977). Intellectual level (I. Q.) in hétérozygotes for phenylketonuria (PKU), Hum. Genet., 38, 285—288

1328а.Г/геш S.L., Wainscoat J.S., Lynch J.R., Weatherall D.J., Sampietro M., Fiorelli G. (1985). Direct detection of β* 39 thalassaemic mutation with Mae 1, Lancet, 1, 1095.

1329. Tilghman S.M., Tiemeyer D.C., Seirman J.G., Peterlin B. M., Sullivan M., Maizel J. V., Leder P. (1978). Intervening sequence of DNA identified in the structural portion of a mouse ß-globin gene, Proc. Natl. Acad. Sei. USA, 75, 725-729.

1329a.Tonegawa S. (1983). Somatic generation of antibody diversity, Nature, 302, 575-581.

  1. Toniolo D., Persico M.G., Battistuzzi G., Luzzatto L. (1984). Partial purification and characterization of the messenger RNA for human glucose-6-phosphate dehydrogenase, Mol. Biol Med., 2, 89-103.

  2. UdenfriendS., Cooper J.R. (1952). The enzymatic conversion of phenylalanine to tyrosine, J. Biol. Chem., 194, 503.

  3. Utermann G., Langenbeck U., Beisiegel U., Weber W. (1980). Genetics of the apolipoprotein E system in man, Amer. J. Hum. Genet, 31, 339-347.

  4. Valentine W. N., Fink K., PagliaD.E., Harris S. R., Adams W. S. (1974). Hereditary hemolytic anemia with human erythrocyte pyrimidine S' nucleotidase deficiency, J. Clin. Invest, 54, 866-879.

Литература 287

034. Valentine W. N., PagliaD.E., Tartaglia A.P., Gilsanz F. (1977). Hereditary hemolytic anemia with increased adenosine triphosphate, Science, 195, 783-784.

  1. Vesell E. S. (1973). Advances in pharmacogenetics. In: Prog. Med. Genet., 9, 291-367.

  2. Vischer T. L. (1983). Pharmacogenetics in therapy with gold and other slow-acting antirheumatic drugs, Rheumatology, 8, 220228.

  3. Vogel F. (1959). Moderne Probleme der Humangenetik, Ergeb. Inn. Med. Kinderheilk, 12, 52-125.

  4. Vogel F. (1964). Eine vorläufige Abschätzung der Anzahl manschlicher Gene, Z. Menschl. Vererbungs-Konstitutionslehre, 37, 291-299.

  5. Vogel F. (1964). Preliminary estimate of the number of human genes, Nature, 201, 847.

  6. Vogel F. (1984). Relevant deviations in hétérozygotes of autosomal-recessive diseases, Clin. Genet., 25, 381-415.

  7. Wachtel S.S. (1977). H-Y antigen and the genetics of sex determination, Science, 198, 797-799.

  8. Wachtel S. (ed.) (1981). Errors of sex determination (Proc. of the Kroc. Foundation Conf), Hum. Genet., 58, 1-127.

  9. Wachtel S. S., Ohno S., Loo G. С., Boyse E. A. (1975). Possible role of H-Y antigen in primary sex determination, Nature, 257, 235-236.

  10. Wainscoat J. S., Thein S. L., Higgs D. R., Bell J. L, Weatherall D. J., Al-Awamy B. H., Serjeant G.R. (1985). A genetic marker for elevated levels of haemoglobin F in homozygous sickle cell disease, Br. J. Haematol., 60, 261-268.

ima.Weinwright B.J. (etal.) (1985). Localization of cystic fibrosis locus of human chromosome 7cen-p22, Nature, 318, 384-385.

  1. Waller H.D., Benöhr A.Chr. (1976). Enzymdefekte in Glykolyse und Nucleotidstoffwechsel roter Blutzellen bei nichtspherocytären hämolytischen Anämien, Klin. Wochenschr., 54, 803-850.

  2. Wang T., Roden D. M., Wolfenden H. T., WoolseyR.L., WoodA.J.J., Wilkinson G.R. (1984). Influence of genetic polymorphism on the metabolism and disposition of encainide in man, J. Pharmacol. Exp. Therap., 228, 605-611.

  3. Watson J.D., Crick F.H.C. (1953). The structure of DNA, Cold Spring Harbor Symp. Quant. Biol, 18, 123-132.

  4. Weatherall D. J. (ed.) (1976). Hemoglobin: Structure, function and synthesis, Br. Med. Bull, 32, (3) 193-287.

  5. Weatherall D.J., Clegg J.B. (1976). Molecular genetics of human hemoglobin, Ann. Rev. Genet, 10, 157-178.

1350. WeatherallD. J., Clegg J.B. (1981). The tha; lassemia syndromes, 3rd ed., Blackwell, ί Oxford.

1351. Weatherall D. J., Wainscoat J. S., Thein S. L., Old J. M., Wood W. G., Higgs D. R., Clegg J. B. (1985). Genetic and molecular analysis of mild

forms of homozygous ß-thalassemia, Ann. NY Acad. Sei., 445, 68-80.

  1. Weatherall D.J., WoodW.G., Jones R.W., Clegg J.B. (1985). The developmental genetics of human hemoglobin. In: Experimental Approaches for the Study of Hemoglobin Switching, Stamatoyannopoulos G., Nienhuis A. W. (eds.), Alan R. Liss, New York, pp. 3-25.

  2. WedlundP.J., Aslanian W.S., McAllister C.B., Wilkinson G. R., Branch R. A. (1984). Mephenytoin hydroxylation deficiency in Caucasians: frequency of a new oxidative drug metabolism polymorphism, Clin. Pharmacol. Therap., 36, 773-780.

  3. Weinshilboum R.M., SladekS.L., (1980). Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity, Am. J. Hum. Genet., 32, 651-662.

  4. White J.M. (1974). The unstable hemoglobin disorders, Clin. Haematol., 3, 333-356.

  5. White J.M. (1976). The unstable hemoglobins, Br. Med. Bull., 32, 219-222.

  6. White J.M., Dacie J.V. (1971). The unstable hemoglobins-molecular and clinical features, Prog. Hematol., 7, 69-109.

1357a.Wji<e R. et al (1985). A closely linked genetic marker for cystic fibrosis, Nature, 318, 382-384.

  1. Wieacker P., Davies K., Pearson P., Ropers H. H. (1983). Carrier detection m Duchenne muscular dystrophy by use of cloned DNA sequences, Lancet, 1, 1325-1326.

  2. Wilkins L. (1950). The diagnosis and treatment of endocrine disorders in childhood and adolescence, Thomas, Springfield.

  3. Williamson R. (1976). Direct measurement of the number of globin genes, Br. Med. Bull., 32, 246-250.

  4. Wilson J.M., Young A.B., Kelley W.N. (1983). Hypoxanthine-guanine phosphoribosyltranspherase deficiency, N. Engl. Med., 309, 900-910.

  5. WolfU., Engel W. (1972). Gene activation during early development of mammals, Hum. Genet., 15, 99-118.

  6. Wolfe L.C., John K.M., Falcone J.C., Byrne A.M., Lux S.E. (1982). A genetic defect in the binding of protein 4.1 to spectrin in a kindred with hereditary spherocytosis, N. Engl. J. Med., 307, 1367-1374.

1363a.Woo S.L.C., Guttler F., Ledley F.D., Lidsky A. S., KwokS.C.M., DiMlaA.G., Robson K. J. H. (1985). The human poenylalanine hydroxylase gene. In: (K. Berg, ed.) Medical genetics Past, present, future, New York, A. R. Liss, pp. 123-135.

  1. Wood W.G., Clegg J.B., Weatherall D. J. (1977). Developmental biology of human gemoglobins. In: Progress in hematology, Brown E. B. (ed.), Vol. X, Grune and Stratton, New York, pp. 43-90.

  2. Worthy Т.Е., Grobner W., Kelley W.N. (1974). Hereditary orotic aciduria: Evidence for a