Bioinformatic and functional analysis of promoter region of human SLC25A13 gene.
Sign Up to like & getrecommendations! Published in 2019 at "Gene"
DOI: 10.1016/j.gene.2019.01.023
Abstract: The human SLC25A13 gene encodes the liver type aspartate/glutamate carrier isoform 2 (AGC2, commonly named as citrin), which plays a key role in the main NADH-shuttle of human hepatocyte. Biallelic SLC25A13 mutations result in Citrin… read more here.
Keywords: slc25a13; analysis; promoter; slc25a13 gene ... See more keywords
Genetic and clinical features of patients with intrahepatic cholestasis caused by citrin deficiency
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2022-0616
Abstract: Abstract Objectives Citrin deficiency (CD) is an autosomal recessive disease caused by mutations of the SLC25A13 gene, plasma bile acid profiles detected by liquid chromatography-tandem mass spectrometry (LC-MS/MS) could be an efficient approach for early… read more here.
Keywords: cholestasis; plasma bile; citrin deficiency; intrahepatic cholestasis ... See more keywords