Title : Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A.

Pub. Date : 2009 Aug

PMID : 19632629






1 Functional Relationships(s)
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1 Unexpectedly, the 94-amino-acid fusion peptide derived from the R34fs/60 mutation accentuated the late sodium current of R1195H-containing Na(V)1.5 channels in vitro. Sodium immunoglobulin lambda variable 2-18 Homo sapiens