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Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker.

1. Three families with a form of myotonia (muscle stiffness due to membrane hyperexcitability) clinically distinct from previously classified myotonias were examined. The severity of the disease greatly differed among the families. 2. Three dominant point mutations were discovered at the same nucleo...

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Detaylı Bibliyografya
Asıl Yazarlar: Lerche, H, Heine, R, Pika, U, George, A L, Mitrovic, N, Browatzki, M, Weiss, T, Rivet-Bastide, M, Franke, C, Lomonaco, M
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1993
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1143902/
https://ncbi.nlm.nih.gov/pubmed/8308722
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