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Updated: Jan 9, 2026

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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凝聚素加载子单元MAU2中的致病变异导致一种新的康奈莉亚·德朗格综合征亚型

Ilaria Parenti1, Alina Hesters1, Marta Gil-Salvador2

  • 1Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.

medRxiv : the preprint server for health sciences
|December 3, 2025
PubMed
概括

在MAU2基因的突变导致康奈莉亚·德朗格综合征 (CdLS),一个染色因子病. 功能性研究和小鼠模型证实,MAU2变异导致重度可变的CDLS样特征.

关键词:
一致性在装载机上康妮莉亚·德朗格综合征 康妮莉亚·德朗格综合征这就是MAU2的意义.尼普布尔 (NIPBL) 是一种标签: 电子签名 电子签名

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