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Article

A new candidate mutation, G1629R, in a patient with type 2A von Willebrand's disease: basic mechanisms and clinical implications.

Haematologica - 1 Sept 2004

Hilbert Lysiane, Federici Augusto B, Baronciani Luciano, Dallagiovanna Serena, Mazurier Claudine

Abstract excerpt

BACKGROUND AND OBJECTIVES: Type 2A von Willebrand's disease (VWD) refers to disease variants with decreased platelet-dependent function of von Willebrand factor (VWF) associated with the absence of high molecular weight (HMW) multimers. The candidate G1629R mutation, identified in an Italian patient with type 2A VWD, was expressed to confirm the relationship between phenotype and genotype. DESIGN AND METHODS:...

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Source

Identifiers

PMID: 15377475

Genes

VWF

Provenance

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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