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Updated: Jul 24, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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在WBP4中双性功能损失变体,编码一个拼接体蛋白质,导致一个可变的神经发育延迟综合征

Eden Engal1,2, Kaisa Teele Oja3,4, Reza Maroofian5

  • 1Department of Biochemistry and Molecular Biology, The Institute for Medical Research Israel-Canada, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112102, Israel.

medRxiv : the preprint server for health sciences
|July 10, 2023
PubMed
概括

在WW域结合蛋白4 (WBP4) 中的双变异会导致严重的神经发育障碍. 这项研究确定了WBP4功能丧失变体与结体病变相关,影响神经和肌肉骨系统.

关键词:
在WBP4中,您可以使用WBP4.在mRNA前拼接.拼接一个osomeome.综合性神经发育障碍综合征

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