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Article

A common splice site mutation is shared by two families with different type 2N von Willebrand disease mutations.

Thrombosis and haemostasis - 1 Sept 1999

Nesbitt I M, Hampton K K, Preston F E, Peake I R, Goodeve A C

Abstract excerpt

Using an ELISA-based method to detect type 2N von Willebrand disease (VWD), we found two individuals with absent FVIII binding. Direct sequencing of the FVIII binding region of the von Willebrand factor (VWF) gene showed that one individual had an R854Q substitution whilst the other had a T791M substitution. The very low FVIII binding and the VWF:Ag levels in both individuals suggested a second defect on the...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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PMID: 10494764

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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A common splice site mutation is shared by two families with different type 2N von Willebrand disease mutations.PMID 10494764Read ↗

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