Molecular characterization of Iranian patients with type 3 von Willebrand disease.

doi:10.1111/j.1365-2516.2009.02046.x

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Article

Molecular characterization of Iranian patients with type 3 von Willebrand disease.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Sept 2009

Shahbazi S, Mahdian R, Ala F A, Lavergne J-M, Denis C V, Christophe O D

Abstract excerpt

von Willebrand's disease (VWD) type 3 is a rare but severe autosomal-recessive inherited bleeding disorder with a prevalence higher in certain locations where consanguineous marriages are relatively frequent. The genetic defects causing recessive type 3 VWD in 10 unrelated families from Iran have been investigated and the genetic heterogeneity among these patients was evaluated. All exons and their flanking...

Topics

Adult
Codon, Nonsense
Exons
Female
Genes, Recessive
Genetic Heterogeneity
Genetic Testing
Genotype
Humans
Iran
Male
Middle Aged
Molecular Sequence Data
Pedigree
Phenotype

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Open in PubMed

Identifiers

PMID: 19500169
DOI: 10.1111/j.1365-2516.2009.02046.x

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Polymerase Chain Reaction

Prevalence

Sequence Analysis, DNA