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Annu Rev Pharmacol Toxicol 45, 51-88 (2005)
HCA, hydroxy carboxylic acid
We report on the performance of whole-exome sequencing in members of a consanguineous family with a history of pediatric hypertrophic cardiomyopathy and sudden cardiac death, which led to the identification of a homozygous stop variant in the SLC22A5 gene, implicated in primary carnitine deficiency, as the likely genetic cause
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