[Phenotype and genotype analysis of three Chinese pedigrees with von Willebrand disease].

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Article

[Phenotype and genotype analysis of three Chinese pedigrees with von Willebrand disease].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 1 Feb 2011

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

Abstract excerpt

OBJECTIVE: To analyze phenotype and genotype of three Chinese pedigrees with von Willebrand disease (vWD), and explore the molecular mechanism. METHODS: Bleeding time (BT), activated partial thromboplastin time (APTT), ristocetin-induced platelet aggregation (RIPA), von Willebrand factor (vWF): ristocetin cofactor (RCof) (vWF:RCof), vWF antigen (vWF:Ag), vWF activity (vWF:A) test, vWF collagen binding assay...

Topics

Adult
Child
DNA Mutational Analysis
Female
Genotype
Heterozygote
Humans
Male
Pedigree
Phenotype
von Willebrand Diseases
von Willebrand Factor

Source

Open in PubMed

Identifiers

PMID: 21429375

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