Arg578Gln mutations in the von Willebrand factor gene in three unrelated cases of type IIB von Willebrand disease.
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.
Piao
Y C
YC
INSERM U. 143, Hôpital de Bicêtre.
Lavergne
J M
JM
Boyer-Neumann
C
C
Schandelong
A
A
Alessi
M C
MC
Meyer
D
D
D000328:Adult; D000368:Aged; D001120:Arginine / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D018076:DNA, Complementary / Q000737:chemistry; D005260:Female; D005973:Glutamine / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D014842:von Willebrand Diseases / Q000097:blood / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics*
D018076:DNA, Complementary; D014841:von Willebrand Factor; D005973:Glutamine; D001120:Arginine