Identification of a new type 2M von Willebrand disease mutation also at position 1324 of von Willebrand factor.

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Article

Identification of a new type 2M von Willebrand disease mutation also at position 1324 of von Willebrand factor.

Thrombosis and haemostasis - 1 Apr 2002

Hilbert L, Fressinaud E, Ribba A S, Meyer D, Mazurier C

Abstract excerpt

Type 2M von Willebrand disease (VWD) refers to variants with decreased platelet-dependent function that is not associated with the loss of high molecular weight (HMW) von Willebrand factor (VWF) multimers. This category includes the so-called "phenotype B" responsible for inexistent ristocetin-induced but normal botrocetin-induced binding of VWF to platelet glycoprotein lb. The missense mutation G1324S was...

Topics

Adult
Amino Acid Substitution
Animals
Biopolymers
COS Cells
Chlorocebus aethiops
Codon
DNA Mutational Analysis
Exons
Female
France
Hemorrhage
Heterozygote
Humans
Male

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

Pedigree

Phenotype

Source

Open in PubMed

Identifiers

PMID: 12008946

Genes

Variants

Provenance

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