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Updated: Jun 4, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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在SENP7中,一个拼接部位变异导致严重形式的关节结症

Udhaya Kotecha1, Euri S Kim2, Parth S Shah3,4

  • 1Neuberg Center for Genomic Medicine, Ahmedabad, India.

Clinical genetics
|January 4, 2025
PubMed
概括

综合性先天性关节 (AMC) 是一种罕见的疾病. 一项研究发现了一种新的SENP7基因突变,在血缘关系家族中引起致命的AMC,扩大了这种疾病的已知遗传原因.

关键词:
这就是SUMOylation的作用.关节结症多重性先天性我们的合同是合同,合同是合同.脱SUMOylase酶的使用情况刺症是一种刺症.

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