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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Channels (Austin)
Autores principales: 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
Lenguaje:Inglês
Publicado: Taylor & Francis 2015
Materias:
Research Paper
Acceso en línea: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
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares