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：
来源：
BRITISH JOURNAL OF HAEMATOLOGY | 1989年 / 71卷 / 02期
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：
引用
收藏
页码：271 / 276
页数：6
相关论文
共 24 条
[1]   A NEW HIND-III RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM IN THE HEMOPHILIA-A LOCUS [J].
AHRENS, P ;
KRUSE, TA ;
SCHWARTZ, M ;
RASMUSSEN, PB ;
DIN, N .
HUMAN GENETICS, 1987, 76 (02) :127-128
[2]   HIGH-RESOLUTION ANALYSIS OF THE HUMAN HLA-DR POLYMORPHISM BY HYBRIDIZATION WITH SEQUENCE-SPECIFIC OLIGONUCLEOTIDE PROBES [J].
ANGELINI, G ;
DEPREVAL, C ;
GORSKI, J ;
MACH, B .
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 [J].
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 .
NEW ENGLAND JOURNAL OF MEDICINE, 1985, 313 (14) :842-848
[5]   RESTRICTION SITES CONTAINING CPG SHOW A HIGHER FREQUENCY OF POLYMORPHISM IN HUMAN DNA [J].
BARKER, D ;
SCHAFER, M ;
WHITE, R .
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
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