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Article

Identification of a new nonsense mutation in the von Willebrand factor gene in patients with von Willebrand disease type III.

Human molecular genetics - 1 Apr 1992

Zhang Z P, Falk G, Blombäck M, Egberg N, Anvret M

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 1301136
DOI: 10.1093/hmg/1.1.61

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a new nonsense mutation in the von Willebrand factor gene in patients with von Willebrand disease type III.PMID 1301136Read ↗

Identification of a novel candidate splice site mutation (0874 + 1G > A) in a type 3 von Willebrand disease patient.Semantic proximity Read ↗

A common variant in the Von Willebrand factor gene is associated with multiple functional consequences.Semantic proximity Read ↗

First identification and expression of a type 2N von Willebrand disease mutation (E1078K) located in exon 25 of von Willebrand factor gene.Semantic proximity Read ↗

The genetic basis of von Willebrand diseaseSemantic proximity Read ↗

Multiple von Willebrand factor mutations in patients with recessive type 1 von Willebrand disease.Semantic proximity Read ↗

A stop codon in a patient with severe type III von Willebrand disease.Semantic proximity Read ↗

Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I.Semantic proximity Read ↗

A standard nomenclature for von Willebrand factor gene mutations and polymorphisms.Semantic proximity Read ↗

Mutation analysis and clinical implications of von Willebrand factor–cleaving protease deficiencySemantic proximity Read ↗

An apparently silent nucleotide substitution (c.7056C>T) in the von Willebrand factor gene is responsible for type 1 von Willebrand disease.Semantic proximity Read ↗

Identification of a homozygous Cys410Ser mutation in the von Willebrand factor D2 domain causing type 2A(IIC) von Willebrand disease phenotype in an Iranian patient.Semantic proximity Read ↗

Clinical profile of the association of P.R1205h and P.R924q in a patient with von Willebrand's disease.Semantic proximity Read ↗

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