ARG578GLN MUTATIONS IN THE VON-WILLEBRAND-FACTOR GENE IN 3 UNRELATED CASES OF TYPE-IIB VON-WILLEBRAND DISEASE

被引：0
|
作者：
PIAO, YC
LAVERGNE, JM
BOYERNEUMANN, C
SCHANDELONG, A
ALESSI, MC
MEYER, D
机构：
[1] HOP BICETRE,INSERM,U143,F-94275 LE KREMLIN BICETR,FRANCE
[2] HOP MONOD,LE HAVRE,FRANCE
[3] HOP LA TIMONE,MARSEILLE,FRANCE
来源：
BLOOD COAGULATION & FIBRINOLYSIS | 1993年 / 4卷 / 05期
关键词：
VON-WILLEBRAND FACTOR; TYPE-IIB VON-WILLEBRAND DISEASE; MUTATIONS;
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
A recurrent heterozygous CGG-->CAG (Arg578Gln) mutation was detected in exon 28 of the von Willebrand factor gene in three additional unrelated families with inherited type IIB von Willebrand disease. This identical mutation showed a differential phenotypic expression in each family.
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收藏
页码：787 / 789
页数：3
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