[Phenotype and genotype analysis of two Chinese pedigrees with type 3 von Willebrand diseases].

doi:10.3760/cma.j.issn.1003-9406.2012.05.005

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Article

[Phenotype and genotype analysis of two Chinese pedigrees with type 3 von Willebrand diseases].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2012

Jiang Lin-lin, Wang Xue-feng, Ding Qiu-lan, Xu Guan-qun, Zhang Li-wei, Dai Jing, Lu Ye-ling, Wang Hong-li, Xi Xiao-dong

Abstract excerpt

OBJECTIVE: To analyze the phenotype and genotype of two Chinese pedigrees with von Willebrand diseases, and to investigate the molecular pathogenesis. METHODS: Bleeding time (BT), activated partial thromboplastin time (APTT), ristocetin-induced platelet aggregation (RIPA), von Willebrand factor-ristocetin cofactor (vWF:Rco), von Willebrand factor antigen (vWF:Ag), von Willebrand factor activity (vWF:A), von...

Topics

Adolescent
Female
Genotype
Humans
Male
Mutation
Pedigree
Phenotype
von Willebrand Disease, Type 3
von Willebrand Factor

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Open in PubMed

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PMID: 23042386
DOI: 10.3760/cma.j.issn.1003-9406.2012.05.005

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