Genetics

Download e-book for iPad: Advances in Human Genetics 1 by James D. Goldberg, Mitchell S. Golbus (auth.), Harry Harris,

By James D. Goldberg, Mitchell S. Golbus (auth.), Harry Harris, Kurt Hirschhorn (eds.)

ISBN-10: 1461282799

ISBN-13: 9781461282792

ISBN-10: 1461309875

ISBN-13: 9781461309871

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And Nyland, M. , 1983, Feasibility offust trimester prenatal diagnosis of Hunter syndrome, Lancet 2:1147. , and Fensom, A. , 1985, 4-Methylumbelliferyl alpha-N-acetylg1ucosaminidase activity for diagnosis of Sanfillipo B disease, Clin. Genet. 27:258-262. , 1986, Falsenegative finding on chorionic villus sampling, Lancet 2:391-392. , 1985, Cytogenetic findings in fust trimester chorionic villi biopsies: A collaborative study, in: First Trimester Fetal Diagnosis (M. ), pp. 109-120, Springer-Verlag, Berlin.

And McGillivray, B. , 1984, Risk of spontaneous abortion in ultrasonically normal pregnancies, Lancet 2:920-921. Wynn, R. , 1975, Development and ultrastructural adaptions of the human placenta, Eur. J. Gynaecoi. Reprod. Bioi. 5:3-21. Chapter 2 The Molecular Genetics of Hemophilia A and B in Man Factor VIII and Factor IX Deficiency Stylianos E. Antonarakis Genetics Unit Department of Pediatrics The Johns Hopkins University School of Medicine Baltimore, Maryland 21205 INTRODUCTION Hemophilias are relatively common inherited disorders of blood coagulation arising from deficiency of two different clotting factors VIII and IX.

1985a). 2. Deletion of about 39 kb that eliminates exons 23-25. , 1985c). 3. Deletion of about 22 kb that eliminates exon 26. , 1985c). 4. Deletion of about 7 kb that eliminates ex on 6 of the factor VIn gene. , 1987). 5. 5 kb that eliminates the 5' part of ex on 14 of the factor VIn gene. , 1987a). 6. 4 kb that eliminates exons 24 and 25 of the factor VnI gene. The proband had severe hemophilia A and was inhibitor-negative. , 1987). 7. 5 kb that eliminates exons 23-25 ofthe factor VnI gene. The proband had severe hemophilia A and was inhibitor-negative.

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Advances in Human Genetics 1 by James D. Goldberg, Mitchell S. Golbus (auth.), Harry Harris, Kurt Hirschhorn (eds.)


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