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Updated: Jun 4, 2025

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
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线粒体三功能蛋白质缺陷是由深层内基缺失引起的,导致异常拼接

Thomas Cassini1, Sarah Silverstein2,3,4, Molly Behan5

  • 1Division of Medical Genetics and Genomic Medicine, Department of Pediatrics Vanderbilt University Medical Center Nashville Tennessee USA.

JIMD reports
|December 26, 2024
PubMed
概括

三功能蛋白质缺乏症 (TFP) 是一种罕见的脂肪酸氧化障碍. 基因分析揭示了HADHB的复合异构基因突变,解释了两个兄弟姐妹的严重TFP症状,包括FSGS和骨髓衰竭.

关键词:
在RNAseqqq中使用.未被诊断的疾病网络.内部变种是一种内部变种.鼻性综合征是什么意思三功能的蛋白质缺乏症

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