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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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基于ACMG/AMP的新型HBA2变种的变种分类 (HBA2:C.297del,Hb Taiping) 在复合异性中与Hb Adana (HBA2:C.179G>A) 引起非删除性Hb H疾病

Norafiza Mohd Yasin1,2, Suguna Somasundram1, Syahzuwan Hassan1

  • 1Haematology Unit, Cancer Research Centre (CaRC), Institute for Medical Research (IMR), National Institute for Health (NIH) Setia Alam, Setia Alam, Selangor, Malaysia.

International journal of laboratory hematology
|January 6, 2026
PubMed
概括

一种新的α-环球蛋白基因变异,Hb Taiping,在一个患有α-thalassaemia的马来人家庭中被发现. 这一发现有助于精确地分类全球蛋白基因变异,以改善诊断和遗传咨询.

关键词:
阿尔法 - 塔拉萨血症这种新型变种是新奇的.变种分类的变种分类.

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