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Updated: Jan 13, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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[对VWF基因c.7332G的分析>一个无意义的突变基因和分子致病学的研究]

Duan-Yang Wang1, Lei Wang1, Dong-Yan Fu1

  • 1Department of Hematology, The Sencond Hospital of Shanxi Medical University, Center for Shanxi Medical University Coagulation and Tumor of the Hematopoietic and Lymphoid Tissues Diseases, Taiyuan 030001, Shanxi Province, China.

Zhongguo shi yan xue ye xue za zhi
|January 8, 2026
PubMed
概括

在VWF基因 (c.7332G>A) 中的一种新型同卵性无意义突变导致3型·维勒布兰德病. 这种遗传缺陷会损害VWF的mRNA和蛋白质水平,导致VWF多元化和功能缺陷.

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