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

Authors
PIAO YC LAVERGNE JM BOYERNEUMANN C SCHANDELONG A ALESSI MC MEYER D
Citation
Yc. Piao et al., ARG578GLN MUTATIONS IN THE VON-WILLEBRAND-FACTOR GENE IN 3 UNRELATED CASES OF TYPE-IIB VON-WILLEBRAND DISEASE, Blood coagulation & fibrinolysis, 4(5), 1993, pp. 787-789
Citations number
5
Categorie Soggetti
Hematology
Journal title
Blood coagulation & fibrinolysis → ACNP
ISSN journal
09575235
Volume
4
Issue
5
Year of publication
1993
Pages
787 - 789
Database
ISI
SICI code
0957-5235(1993)4:5<787:AMITVG>2.0.ZU;2-S
Abstract
A recurrent heterozygous CGG-->CAG (Arg578Gln) mutation was detected i n exon 28 of the von Willebrand factor gene in three additional unrela ted families with inherited type IIB von Willebrand disease. This iden tical mutation showed a differential phenotypic expression in each fam ily.