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Updated: Jul 27, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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

Published on: August 20, 2019

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古斯塔夫森综合征是由RBMX的框架内删除引起的,与可能被破坏的SH3域相互作用相关

Josefin Johansson1, Sarah Lidéus1, Carina Frykholm1

  • 1Department of Immunology, Genetics and Pathology, Biomedical Centre, Uppsala University, Uppsala, Sweden.

European journal of human genetics : EJHG
|June 5, 2023
PubMed
概括

一种新的RBMX基因删除会导致古斯塔夫森综合征,这是一种严重的X相关智力障碍. 这一遗传发现揭示了RBMX蛋白功能及其在大脑发育和转录中的作用的新见解.

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CRISPR/Cas9 Editing of the C. elegans rbm-3.2 Gene using the dpy-10 Co-CRISPR Screening Marker and Assembled Ribonucleoprotein Complexes.07:46

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Published on: December 11, 2020

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