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Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing

Paramyotonia congenita (PC) is a rare autosomal dominant neuromuscular disorder characterized by juvenile onset and development of cold-induced myotonia after repeated activities. The disease is mostly caused by genetic mutations of the sodium channel, voltage-gated, type IV, alpha subunit (SCN4A) g...

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Detalles Bibliográficos
Autores principales:	Li, Jinxin, Huang, Qinghai, Ge, Liang, Xu, Jing, Shi, Xingjuan, Xie, Wei, Liu, Xiang, Liu, Xiangdong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2015
Materias:	Regular Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4535863/ https://www.ncbi.nlm.nih.gov/pubmed/26484179 http://dx.doi.org/10.1016/j.gdata.2015.03.002

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