Title : Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica.

Pub. Date : 2001 May

PMID : 11309455






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 Three polymorphic sites, Gln371Glu, Thr704Met, and Aspl376Asn were identified in SCN4A. aspl376asn sodium voltage-gated channel alpha subunit 4 Homo sapiens