The R2464C missense mutation in the von Willebrand factor gene causes a novel abnormality of multimer electrophoretic mobility and falls into the subgroup of type 2 von Willebrand disease 'unclassified'.
Lester
William A
WA
Guilliatt
Andrea M
AM
Enayat
M Said
MS
Rose
Peter
P
Hill
Frank G H
FG
D019281:Dimerization; D004586:Electrophoresis; D006801:Humans; D020125:Mutation, Missense; D014842:von Willebrand Diseases / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics*
D014841:von Willebrand Factor