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 ;
摘要
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收藏
页码:271 / 276
页数:6
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共 24 条
  • [1] A NEW HIND-III RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM IN THE HEMOPHILIA-A LOCUS
    AHRENS, P
    KRUSE, TA
    SCHWARTZ, M
    RASMUSSEN, PB
    DIN, N
    [J]. HUMAN GENETICS, 1987, 76 (02) : 127 - 128
  • [2] HIGH-RESOLUTION ANALYSIS OF THE HUMAN HLA-DR POLYMORPHISM BY HYBRIDIZATION WITH SEQUENCE-SPECIFIC OLIGONUCLEOTIDE PROBES
    ANGELINI, G
    DEPREVAL, C
    GORSKI, J
    MACH, B
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1986, 83 (12) : 4489 - 4493
  • [3] ANTONARAKIS SE, 1987, MOL BIOL MED, V4, P81
  • [4] HEMOPHILIA-A - DETECTION OF MOLECULAR DEFECTS AND OF CARRIERS BY DNA ANALYSIS
    ANTONARAKIS, SE
    WABER, PG
    KITTUR, SD
    PATEL, AS
    KAZAZIAN, HH
    MELLIS, MA
    COUNTS, RB
    STAMATOYANNOPOULOS, G
    BOWIE, EJW
    FASS, DN
    PITTMAN, DD
    WOZNEY, JM
    TOOLE, JJ
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1985, 313 (14) : 842 - 848
  • [5] RESTRICTION SITES CONTAINING CPG SHOW A HIGHER FREQUENCY OF POLYMORPHISM IN HUMAN DNA
    BARKER, D
    SCHAFER, M
    WHITE, R
    [J]. CELL, 1984, 36 (01) : 131 - 138
  • [6] BERNARDI F, 1987, HUM GENET, V76, P253
  • [7] BERNARDI F, 1988, HUM GENET, V68, P243
  • [8] BUFFONE GJ, 1985, CLIN CHEM, V3, P164
  • [9] DAVIS LG, 1986, BASIC METHODS MOL BI, P75
  • [10] Feinstein D I, 1972, Prog Hemost Thromb, V1, P75