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Article

The study of the effect of splicing mutations in von Willebrand factor using RNA isolated from patients' platelets and leukocytes.

Journal of thrombosis and haemostasis : JTH - 1 Apr 2011

Corrales I, Ramírez L, Altisent C, Parra R, Vidal F

Abstract excerpt

BACKGROUND: In von Willebrand factor (VWF) the effect of mutations potentially affecting mRNA processing or splicing is less predictable than that of other mutations (e.g. nonsense or missense substitutions). Bioinformatic tools can provide a valuable means to determine the consequences of potential splice site mutations (PSSM), but functional studies are mandatory to elucidate the true effect of the variation...

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

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Source

Identifiers

PMID: 21251206
DOI: 10.1111/j.1538-7836.2011.04204.x

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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The study of the effect of splicing mutations in von Willebrand factor using RNA isolated from patients' platelets and leukocytes.PMID 21251206Read ↗

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