在两个患有婴儿限制性心肌病症的兄弟姐妹中,TAF1A中的两种潜在致病的误解变异
Nan Jiang1, Wenyuan Xu2, Aliaa Abdelhakim3
1Department of Pathology & Cell Biology, Columbia University Irving Medical Center, New York, NY, United States; Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, United States.
European journal of medical genetics
|August 29, 2024
概括
TAF1A基因变异与一种罕见的儿科心肌病症有关. 这项研究发现了新的病例,加强了TAF1A的证据.
科学领域:
- 遗传学和分子生物学
- 心脏病学 心脏病学
- 儿科 儿科 儿科
背景情况:
- TAF1A是一种TATA盒结合蛋白,对核糖体RNA合成至关重要,已被认为是儿科心肌病的候选基因.
- 之前的报道在两个患儿心肌病的家庭中发现了双联TAF1A变异,这表明存在潜在的遗传联系.
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