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一个伊朗家庭的新型VPS13A突变,患有霍雷亚 - 甲细胞瘤

Maryam Salmanian1, Fatemeh Mohammadian2, Fatemeh Alizadeh3

  • 1Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

Neurogenetics
|October 22, 2025
PubMed
概括

胆核 - 胆核细胞突变 (ChAc) 是一种罕见的遗传疾病. 研究人员在两个伊朗兄弟身上发现了一种新的VPS13A基因突变,扩大了已知的ChAc.Ac遗传原因.

关键词:
这就是VPS13A基因.霍雷亚-阿坎托细胞结合症框架移位突变是什么?伊朗 伊朗 伊朗 伊朗

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