Substitution of cysteine for phenylalanine 751 in mature von Willebrand factor is a novel candidate mutation in a family with type IIA von Willebrand disease.

doi:10.1111/j.1365-2141.1993.tb04637.x

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Article

Substitution of cysteine for phenylalanine 751 in mature von Willebrand factor is a novel candidate mutation in a family with type IIA von Willebrand disease.

British journal of haematology - 1 Jan 1993

Gaucher C, Hanss M, Dechavanne M, Mazurier C

Abstract excerpt

Type IIA is a variant form of von Willebrand disease (vWD) characterized by the absence of von Willebrand factor (vWF) high molecular weight multimers in plasma. Most of the candidate missense mutations potentially responsible for type IIA vWD have been found clustered within a short segment of v...

Topics

Cysteine
Exons
Genotype
Humans
Mutation
Pedigree
Phenotype
Phenylalanine
Polymerase Chain Reaction
Polymorphism, Genetic
von Willebrand Diseases
von Willebrand Factor

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