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Article

Multiple substitutions in the von Willebrand factor gene that mimic the pseudogene sequence.

Proceedings of the National Academy of Sciences of the United States of America - 15 Mar 1994

Eikenboom J C, Vink T, Briët E, Sixma J J, Reitsma P H

Abstract excerpt

We have analyzed a type IIB and a type I von Willebrand disease family for the presence of mutations in the region coding for the glycoprotein Ib binding domain of the von Willebrand factor. Since this sequence is also present in the highly homologous von Willebrand factor pseudogene, we have studied genomic DNA as well as cDNA, which was produced from RNA isolated from endothelial cells or platelets. In both...

Topics

Base Sequence
DNA
DNA Mutational Analysis
Humans
Molecular Sequence Data
Mutation
Pseudogenes
von Willebrand Diseases
von Willebrand Factor

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 8134377
DOI: 10.1073/pnas.91.6.2221
PMCID: PMC43342

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8134377-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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