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Article

A new candidate mutation (N528S) within the von Willebrand factor propeptide identified in a Japanese patient with phenotype IIC of von Willebrand disease.

European journal of haematology - 1 Aug 1998

Gaucher C, Uno H, Yamazaki T, Mashiba H, Mazurier C

Abstract excerpt

Phenotype IIC of von Willebrand disease (vWD) is a subtype of type 2A vWD characterized by recessive inheritance and an impaired multimerization of von Willebrand factor (vWF) molecules beyond dimers. The 5 patients with phenotype IIC whose vWF gene defect has been characterized so far are either homozygous or double heterozygotes for mutations localized in exons 11, 12, 14 or 15. We report here the...

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Identifiers

PMID: 9714529
DOI: 10.1111/j.1600-0609.1998.tb01076.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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A new candidate mutation (N528S) within the von Willebrand factor propeptide identified in a Japanese patient with phenotype IIC of von Willebrand disease.PMID 9714529Read ↗

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

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Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami.Semantic proximity Read ↗

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Molecular study of von Willebrand disease: identification of potential mutations in patients with type IIA and type IIB.Semantic proximity Read ↗

C1272S: a new candidate mutation in type 2A von Willebrand disease that disrupts the disulfide loop responsible for the interaction of VWF with platelet GP Ib-IX.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 ↗

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Von Willebrand Disease type 2M "Vicenza" in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8 families.Semantic proximity Read ↗

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