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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 between codons 742 and 909. We describe a DNA-based diagnostic technique which enables at least 10 previously described...

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Source

Identifiers

PMID: 9054649
DOI: 10.1046/j.1365-2141.1997.d01-2054.x

Genes

VWF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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