A RECURRENT MISSENSE MUTATION (ARG-]GLN) AND A PARTIAL DELETION IN FACTOR-VIII GENE CAUSING SEVERE HEMOPHILIA-A

被引:13
作者
BERNARDI, F
VOLINIA, S
PATRACCHINI, P
GEMMATI, D
BONINSEGNA, S
SCHWIENBACHER, C
MARCHETTI, G
机构
关键词
D O I
10.1111/j.1365-2141.1989.tb04266.x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
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页码:271 / 276
页数:6
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  • [21] VOGEL F, 1975, ADV HUM GENET, V5, P223
  • [22] RECURRENT MUTATIONS IN HEMOPHILIA-A GIVE EVIDENCE FOR CPG MUTATION HOTSPOTS
    YOUSSOUFIAN, H
    KAZAZIAN, HH
    PHILLIPS, DG
    ARONIS, S
    TSIFTIS, G
    BROWN, VA
    ANTONARAKIS, SE
    [J]. NATURE, 1986, 324 (6095) : 380 - 382
  • [23] CHARACTERIZATION OF 5 PARTIAL DELETIONS OF THE FACTOR-VIII GENE
    YOUSSOUFIAN, H
    ANTONARAKIS, SE
    ARONIS, S
    TSIFTIS, G
    PHILLIPS, DG
    KAZAZIAN, HH
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (11) : 3772 - 3776
  • [24] Mild Hemophilia A Associated with a Cryptic Donor Splice Site Mutation in Intron 4 of the Factor VIII Gene
    Youssoufian, Hagop
    Kazazian, Haig H., Jr.
    Patel, Achyut
    Aronis, Sophia
    Tsiftis, George
    Hoyer, Leon W.
    Antonarakis, Snlianos E.
    [J]. GENOMICS, 1988, 2 (01) : 32 - 36