Rapid mutation screening in type 2A von Willebrand's disease using universal heteroduplex generators.

doi:10.1046/j.1365-2141.1997.d01-2054.x

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Article

Rapid mutation screening in type 2A von Willebrand's disease using universal heteroduplex generators.

British journal of haematology - 1 Mar 1997

Culpan D, Standen G, Wood N, Mazurier C, Gaucher C, Bidwell J

Abstract excerpt

Patients with type 2A von Willebrand's disease (VWD) commonly have missense mutations in the A2 domain of the von Willebrand factor (VWF) protein. This domain is encoded by the 3' region of VWF gene exon 2 8 and the large majority of patients have heterozygous mutations clustered in the sequence...

Topics

Base Sequence
DNA
DNA Mutational Analysis
Genetic Testing
Humans
Molecular Sequence Data
Mutation
Nucleic Acid Heteroduplexes
Polymerase Chain Reaction
von Willebrand Diseases
von Willebrand Factor

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