Title : Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency.

Pub. Date : 2014 Oct

PMID : 25132046






1 Functional Relationships(s)
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1 Based on the analysis of case studies, a clear relationship between free carnitine (C0) level in plasma and OCTN2 genotype was not found in the present work, however, the low plasma C0 level could not indicate disease severity or genotype. Carnitine solute carrier family 22 member 5 Homo sapiens