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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Bendahhou, Saïd, Cummins, Theodore R., Hahn, Angelika F., Langlois, Sylvie, Waxman, Stephen G., Ptácek, Louis J.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: American Society for Clinical Investigation 2000
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC314328/
https://ncbi.nlm.nih.gov/pubmed/10930446
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