Mechanisms of Congenital Myasthenia Caused by Three Mutations in the COLQ Gene

Mechanisms of Congenital Myasthenia Caused by Three Mutations in the COLQ Gene

The gene encoding collagen like tail subunit of asymmetric acetylcholinesterase (COLQ) is responsible for the transcription of three strands of collagen of acetylcholinesterase, which is attached to the endplate of neuromuscular junctions. Mutations in the COLQ gene are inherited in an autosomal-rec...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Xiaona Luo, Chunmei Wang, Longlong Lin, Fang Yuan, Simei Wang, Yilin Wang, Anqi Wang, Chao Wang, Shengnan Wu, Xiaoping Lan, Quanmei Xu, Rongrong Yin, Hongyi Cheng, Yuanfeng Zhang, Jiaming Xi, Jie Zhang, Xiaomin Sun, Jingbin Yan, Fanyi Zeng, Yucai Chen
Format: article
Langue:EN
Publié: Frontiers Media S.A. 2021
Sujets:
COLQ gene
CMS
splicing mutation
missense mutation
exon deletion
Pediatrics
RJ1-570
Accès en ligne:https://doaj.org/article/6939934fb6e9403f8f54ed0089c01920
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Internet

https://doaj.org/article/6939934fb6e9403f8f54ed0089c01920

Documents similaires