A carregar...

A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation

Hyperkalemic periodic paralysis (HyperKPP) is an autosomal dominant skeletal muscle disorder caused by single mutations in the SCN4A gene, encoding the human skeletal muscle voltage-gated Na(+) channel. We have now identified one allele with two novel mutations occurring simultaneously in the SCN4A...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Bendahhou, Saïd, Cummins, Theodore R., Hahn, Angelika F., Langlois, Sylvie, Waxman, Stephen G., Ptácek, Louis J.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2000
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC314328/
https://ncbi.nlm.nih.gov/pubmed/10930446
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!