US$ 23.08
marnys l-carnitina 2000 mg L-Carnitine 20 flacons MARNYS® L-Carnitine 2000 20 vials
Description
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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