Title : A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.

Pub. Date : 2002 Dec

PMID : 12483017






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 The molecular biological study revealed a common missense mutation (Arg1448Cys) at the voltage-gated sodium channel gene (SCN4A). Sodium sodium voltage-gated channel alpha subunit 4 Homo sapiens