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[Analysis of VWF Gene c.7332G>A Nonsense Mutation Pedigree and Study of Molecular Pathogenesis].

Zhongguo shi yan xue ye xue za zhi - 1 Dec 2025

Wang Duan-Yang, Wang Lei, Fu Dong-Yan, Lu Xiao-Mei, Zhao Li-Dong, Zheng Jia-Wei, Yu Ya-Lin, Wang Gang, Yang Lin-Hua

Abstract excerpt

OBJECTIVE: To analyze the genetic characteristics of the VWF gene c. 7332G>A nonsense mutation and explore its molecular pathogenesis. METHODS: Phenotypic diagnosis of the proband was performed using VWF:Ag, VWF:RCo, FⅧ:C and multimeric analysis. The probands were genotyped by NGS whole-exome sequencing, and the sequencing results were validated by sanger sequencing. The family members were genotyped by Sanger...

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PMID: 41502268
DOI: 10.19746/j.cnki.issn.1009-2137.2025.06.022

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