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...

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Detalles Bibliográficos
Autores principales: Luo, Xiaona, Wang, Chunmei, Lin, Longlong, Yuan, Fang, Wang, Simei, Wang, Yilin, Wang, Anqi, Wang, Chao, Wu, Shengnan, Lan, Xiaoping, Xu, Quanmei, Yin, Rongrong, Cheng, Hongyi, Zhang, Yuanfeng, Xi, Jiaming, Zhang, Jie, Sun, Xiaomin, Yan, Jingbin, Zeng, Fanyi, Chen, Yucai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8667818/
https://www.ncbi.nlm.nih.gov/pubmed/34912755
http://dx.doi.org/10.3389/fped.2021.679342

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