Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man

Nature

Volumn 332, Issue 6160, 1988, Pages 164-166

  Kazazian Jr , Haig H ^a   Wong, Corinne ^a   Youssoufian, Hagop ^a,c   Scott, Alan F ^b   Phillips, Deborah G ^a   Antonarakis, Stylianos E ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JOHNS HOPKINS UNIVERSITY   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HEMOPHILIA A; HEREDITY; HUMAN; LETTER; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL;

BASE SEQUENCE; DNA TRANSPOSABLE ELEMENTS; EXONS; FACTOR VIII; GENES; HEMOPHILIA A; HUMAN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; REPETITIVE SEQUENCES, NUCLEIC ACID; SEQUENCE HOMOLOGY, NUCLEIC ACID; SUPPORT, U.S. GOV'T, P.H.S.; TUMOR CELLS, CULTURED;

EID: 0023867459     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/332164a0     Document Type: Article

References (20)

1. Fanning, T. and Singer, M. F. Biochem. biophvs. Acta (in the press).
2. Scott, A. F. et al. Genomics 1, 113-125 (1987).
3. Hattori, M. et al. Nature 321, 625-628 (1986).
4. Sakaki, Y. et al. Cold Spring Harb. Symp. quant. Biol. 51, 465-469 (1986).
5. Skowronski, J. and Singer, M. F. Proc. natn. Acad. Sci U.S.A. 82, 6050-6054 (1985).
6. Skowronski, J. and Singer, M. F. Cold Spring Harb. Symp. quant. Bioi 51, 457-464 (1986).
7. Gitschier, J. et al. Nature 312, 326-330 (1984).
8. Toole, J. J. et al Nature 312, 342-347 (1984).
9. Gitschier, J. et al. Nature 315, 427-430 (1985).
10. Youssoufian, H. et al. Nature 324, 380-382 (1986).
11. Antonarakis, S. E., Youssoufian, H. and Kazazian, H. H. Jr Molec. bioi Med. 4, 81-94 (1987).
12. Maniatis, T., Fritsch, E. G. and Sambrook, J. Molecular Cloning (Cold Spring Harbor, 1982).
13. Sanger, K., Nicklen, S. and Coulson, A. R. Proc. natn. Acad. Sci. U.S.A. 74, 5463-5467 (1977).
14. Mager, D. L., Henthorn, P. S. and Smithies, O. Nucleic Acids Res. 13, 6559-6575 (1985).
15. DiNocra, P. P. and Casari, G. Proc. natn. Acad. Sci. U.S.A. 84, 5843-5847 (1987).
16. DiNocera, P. P., Digan, M. E. and Dawid, I. B. J. molec. Biol 168, 715-727 (1983).
17. Katzir, N. et al. Proc. natn. Acad. Sci. U.S.A. 82, 1054-1058 (1985).
18. Loeb, D. D. et al. Molec. cell. Biol 6, 168-182 (1986).
19. Soares, M. B., Schon, E. and Efstratiadis, A. J. molec. Evol. 22, 117-133 (1985).
20. Adams, J. W. et al Nucleic Acids Res. 8, 6113-6128 (1980).