Arg578Gln mutations in the von Willebrand factor gene in three unrelated cases of type IIB von Willebrand disease
Piao, Y.C.; Lavergne, J.M.; Boyer-Neumann, C.; Schandelong, A.; Alessi, M.C.; Meyer, D.
Blood Coagulation and Fibrinolysis An International Journal in Haemostasis and Thrombosis 4(5): 787-789
1993
ISSN/ISBN: 0957-5235 PMID: 8292729 Document Number: 416065
A recurrent heterozygous CGG fwdarw 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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