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Article

Compound heterozygosity for two novel mutations (1203insG/Y1456X) in the von Willebrand factor gene causing type 3 von Willebrand disease.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Sept 2007

Xie F, Wang X, Cooper D N, Lan F, Fang Y, Cai X, Wang Z, Wang H

Abstract excerpt

A 23-year-old Chinese woman with severe von Willebrand factor (VWF) deficiency and her parents were investigated by PCR/direct sequencing of the VWF gene. The patient was found to be compound heterozygous for two novel null mutations. The first was a microinsertion in exon 8 (1203insG) that introduced a frameshift at codon 298 leading to premature translational termination at codon 302. The second was a C to A...

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Source

Identifiers

PMID: 17880457
DOI: 10.1111/j.1365-2516.2007.01514.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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