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Updated: Sep 15, 2025

Live Imaging and Analysis of Muscle Contractions in Drosophila Embryo
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Published on: July 9, 2019

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与B3GALNT2相关的alpha-dystroglycanopathies的致病机制和临床见解

Xiaona Fu1,2, Hui Wang3,4, Wenjia Chai3,4

  • 1Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

Journal of neuromuscular diseases
|July 16, 2025
PubMed
概括

在B3GALNT2中发生的突变会导致α-DGP,导致肌肉和大脑问题. 这项研究揭示了B3GALNT2活动影响α-DG糖化的一种功能值.

关键词:
在B3GALNT2中.在CHST10中.酶活性的酶活动.葡萄糖转移酶的使用方法硫化硫化剂的使用方法α-二醇糖病症是什么?

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