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Updated: Jul 24, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

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

Published on: August 8, 2022

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在ALPK3中,一种新型的化合物异质合体变体诱导过度缩性心肌病变:一个病例报告

Tiange Li1,2, Yuxi Jin1, Rui Liu1,3

  • 1Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.

Frontiers in cardiovascular medicine
|July 3, 2023
PubMed
概括

这项研究确定了阿尔法激酶3 (ALPK3) 基因中的新型化合物异构基因变异,该变异发生在患有多变性心肌病症 (HCM) 的患者中. 这些ALPK3基因变异与严重的心脏事件有关,可能需要及时干预.

关键词:
在 ALPK3 中,案例报告案例报告过度缩性心肌病变性心脏病.这种新型变种是新奇的.整体外因子测序的测序

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