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Article

A case of recessive type 2N von Willebrand's disease due to Arg 53 Trp substitution.

American journal of hematology - 1 Feb 1995

Pérez-Casal M, Daly M, Peake I, Batlle J

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Identifiers

PMID: 7847341
DOI: 10.1002/ajh.2830480228

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A case of recessive type 2N von Willebrand's disease due to Arg 53 Trp substitution.PMID 7847341Read ↗

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

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

Type 2N von Willebrand disease mutations in Brazilian individuals.Semantic proximity Read ↗

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

R924Q substitution encoded within exon 21 of the von Willebrand factor gene related to mild bleeding phenotype.Semantic proximity Read ↗

The first case of antithrombin-resistant prothrombin Belgrade mutation in Japanese.Semantic proximity Read ↗

Novel missense mutation in a patient with recessive pretibial epidermolysis bullosa and a mild phenotype.Semantic proximity Read ↗

Hb Nottingham or alpha 2 beta 2(98)(FG5)Val----Gly observed as a de novo mutation in a Canadian child.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 ↗

Severe factor VII deficiency caused by a novel point mutation (Arg353Pro) combined with a rare Cys22Arg mutation.Semantic proximity Read ↗

Case Report: An Infant with Severe Thrombocytopenia Diagnosed with Type 2B von Willebrand Disease Due To a De Novo p.Val1316Met MutationSemantic proximity Read ↗

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