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Article

Rapid genotypic diagnosis of type 2A von Willebrand's disease by heteroduplex analysis.

Clinical and laboratory haematology - 1 Jun 1998

Culpan D, Goodeve A, Bowen D J, Standen G, Bidwell J

Abstract excerpt

We have previously reported a rapid heteroduplex-based technique which is able to identify at least 10 recurrent mutations associated with type 2A von Willebrand's disease. Thirteen patients with this disorder were genotyped by this method and a specific mutation was identified in nine cases. Thi...

Topics

DNA
DNA Mutational Analysis
Electrophoresis, Polyacrylamide Gel
Exons
Genotype
Humans
Nucleic Acid Hybridization
Phenotype
Point Mutation
von Willebrand Diseases
von Willebrand Factor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 9681234
DOI: 10.1046/j.1365-2257.1998.00111.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9681234-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Rapid genotypic diagnosis of type 2A von Willebrand's disease by heteroduplex analysis.PMID 9681234Read ↗

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Identification of a new candidate mutation, G1629R, in a family with type 2A von Willebrand disease.Semantic proximity Read ↗

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