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Updated: Feb 11, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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[导致遗传性等离子体缺乏症的复合异质合体等离子体突变:一项家族研究和机理分析]

Y F Lu1, D D Yu1, Q Y Xu1

  • 1Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou 325015, China.

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
|February 9, 2026
PubMed
概括

一位患者遗传性等离子素缺乏与复合异基突变,p.Gly568Arg和p.Ala620Thr.有关. 这些突变通过改变蛋白质构造来损害等离子体的功能,导致等离子体活性降低.

关键词:
遗传性等离子素缺乏症 遗传性等离子素缺乏症在体外表达的体外表达.塑原生是因为塑.形成了血栓的形成.

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