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Updated: May 24, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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在IHH中,一种新的双变异在巴基斯坦一家家庭中引起了骨头椎形症

Tayyaba Saeed1, Nousheen Bibi2, Ashfaq Ahmad3

  • 1Department of Biochemistry, Hazara University, Mansehra, Pakistan.

Molecular genetics & genomic medicine
|March 6, 2025
PubMed
概括

脊髓骨髓发育不良症 (ACFD) 是一种罕见的遗传性疾病. 这项研究在巴基斯坦一家家庭中发现了一种新的IHH基因突变,扩大了已知的ACFD遗传原因.

关键词:
这是一个很好的机会,IHH IHHHH巴基斯坦 巴基斯坦 巴基斯坦.脊椎骨头椎形症 脊椎骨头形症 脊椎骨头形症自体逆行性自体逆行性.动态模拟的动态模拟错误的意义的变体.

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