Myotonia congenita: novel mutations in CLCN1 gene

Myotonia congenita belongs to the group of non-dystrophic myotonia caused by mutations of CLCN1gene, which encodes human skeletal muscle chloride channel 1. It can be inherited either in autosomal dominant (Thomsen disease) or recessive (Becker disease) forms. Here we have sequenced all 23 exons and...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Channels (Austin)
Main Authors: Liu, Xiao-Li, Huang, Xiao-Jun, Shen, Jun-Yi, Zhou, Hai-Yan, Luan, Xing-Hua, Wang, Tian, Chen, Sheng-Di, Wang, Ying, Tang, Hui-Dong, Cao, Li
Formato: Artigo
Idioma:Inglês
Publicado em: Taylor & Francis 2015
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4826137/
https://ncbi.nlm.nih.gov/pubmed/26260254
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/19336950.2015.1075676
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados