Molecular analysis of SLC25A13 gene in human peripheral blood lymphocytes: Marked transcript diversity, and the feasibility of cDNA cloning as a diagnostic tool for citrin deficiency.

Abstract excerpt

Human SLC25A13 gene encodes citrin, the liver-type aspartate-glutamate carrier isoform 2, and SLC25A13 mutations lead to citrin deficiency (CD). The definitive diagnosis of CD relies on SLC25A13 analysis, but conventional DNA analysis could not identify all SLC25A13 mutations. We investigated tra...

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