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Article

Type 2B von Willebrand's disease due to Val1316Met mutation. Heterogeneity in the same sibship.

Annals of hematology - 1 Jun 2001

Rendal E, Penas N, Larrabeiti B, Pérez A, Vale A, López-Fernández M F, Batlle J

Abstract excerpt

An analysis was conducted in four members of the same family, two of whom had a history of severe bleeding associated with type 2B von Willebrand's disease (VWD) which, although found to be due to the same mutation, nevertheless exhibited different phenotype patterns in the two subjects involved. Von Willebrand's factor (VWF) multimers were assayed with high- and low-resolution sodium dodecyl sulfate (SDS)...

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Source

Identifiers

PMID: 11475150
DOI: 10.1007/s002770100303

Genes

VWF
SDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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