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Article

Novel missense mutation c.2685G>C (p.Q895H) in VWF gene associated with very low levels of VWF mRNA.

Annals of hematology - 1 Mar 2009

Cabrera Noelia, Casaña Pilar, Cid Ana Rosa, Haya Saturnino, Moret Andrés, Aznar Jose Antonio

Abstract excerpt

Homozygous patients for null alleles in VWF gene show a severe von Willebrand phenotype, whereas compound heterozygous patients only show the phenotype of the expressed allele. Five members of the same family were studied. The two patients showed borderline VWF levels, a mild factor VIII (FVIII) deficiency and a decrease of the binding of VWF to exogenous FVIII. The genetic analyses of the VWF gene confirmed that...

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Source

Identifiers

PMID: 18712522
DOI: 10.1007/s00277-008-0576-7

Genes

VWF

Variants

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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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Novel missense mutation c.2685G>C (p.Q895H) in VWF gene associated with very low levels of VWF mRNA.PMID 18712522Read ↗

A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele.Semantic proximity Read ↗

The common VWF single nucleotide variants c.2365A>G and c.2385T>C modify VWF biosynthesis and clearance.Semantic proximity Read ↗

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