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Updated: Jul 26, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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在患有海利-海利病的中国人群中发生了两种新奇和一次性ATP2C1突变

Deng Zhang1, Zhen Xiao2, Xiaoliang Ouyang1

  • 1Department of Dermatology, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, People's Republic of China.

Clinical, cosmetic and investigational dermatology
|June 21, 2023
PubMed
概括

这项研究在中国的海利-海利病患者中发现了新的ATP2C1基因突变. c.1402C>T突变是一种普遍存在的区域变异,扩大了这种情况所知的ATP2C1突变谱.

关键词:
在 ATP2C1 中,中国人的血统.海莉海莉病是海莉的疾病.桑格尔测序是什么意思新型突变 新型突变

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