Zhongguo shi yan xue ye xue za zhiHumansCodonNonsensePedigreevon Willebrand Factor
[Analysis of VWF Gene c.7332G>A Nonsense Mutation Pedigree and Study of Molecular Pathogenesis].
Duan-Yang Wang, Lei Wang, Dong-Yan Fu, Xiao-Mei Lu, Li-Dong Zhao, Jia-Wei Zheng, Ya-Lin Yu, Gang Wang, Lin-Hua Yang
Published: 202510.19746/j.cnki.issn.1009-2137.2025.06.022
Abstract
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…
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