Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation.

Abstract excerpt

Familial hypokalemic periodic paralysis is an autosomal-dominant disorder with features of both genetic and phenotypic heterogeneity. Mutation screening was performed on Korean hypokalemic periodic paralysis patients to locate the corresponding mutations and to specify the clinical features associated with the mutations. Target-exon PCR, direct sequencing, and restriction fragment length polymorphism analysis...

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