Characterization of von Willebrand factor gene defects in two unrelated patients with type IIC von Willebrand disease.

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Article

Characterization of von Willebrand factor gene defects in two unrelated patients with type IIC von Willebrand disease.

Blood - 15 Aug 1994

Gaucher C, Diéval J, Mazurier C

Abstract excerpt

Genetic studies were performed in two unrelated patients with the IIC phenotype of von Willebrand disease (vWD) characterized by the increased concentration of the protomeric form of von Willebrand factor (vWF). In patient B, the sequencing of both exons 15 and 16 of the vWF gene showed two sequence alterations: a 3-bp insertion in exon 15 resulting in the insertion of a Glycine at position 625 (625insGly) and a...

Topics

Amino Acid Sequence
Base Sequence
Bleeding Time
DNA
DNA Primers
Exons
Female
Genetic Carrier Screening
Homozygote
Humans
Leukocytes
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Molecular Sequence Data

Mutation

Pedigree

Phenotype

Point Mutation

Source

Open in PubMed

Identifiers

PMID: 8049421

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8049421-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Characterization of von Willebrand factor gene defects in two unrelated patients with type IIC von Willebrand disease.PMID 8049421Read ↗

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