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Article

SCN5A allelic expression imbalance in African-Americans heterozygous for the common variant p.Ser1103Tyr.

BMC medical genetics - 14 May 2010

Killen Stacy A S, Kunic Jennifer, Wang Lily, Lewis Adele, Levy Bruce P, Ackerman Michael J, George Alfred L

Abstract excerpt

BACKGROUND: Heterozygous and homozygous carriers of SCN5A-p.Ser1103Tyr, a common genetic variant with functional effects among African-Americans, have an increased risk of sudden death. We hypothesized that some heterozygous carriers may have unequal expression of wild-type and variant alleles and secondarily that predominance of the variant gene copy could further increase risk for sudden death in this...

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Identifiers

PMID: 20470418
DOI: 10.1186/1471-2350-11-74
PMCID: PMC2891713

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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