Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.

Nota, Benjamin

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. [electronic resource] - American journal of human genetics Apr 2013 - 627-31 p. digital

Publication Type: Journal Article

1537-6605

10.1016/j.ajhg.2013.03.009 doi


Amino Acid Sequence
Anion Transport Proteins--genetics
Biomarkers--analysis
Brain Diseases, Metabolic, Inborn--etiology
Case-Control Studies
Cells, Cultured
Chromatography, Liquid
Citric Acid--metabolism
Exome--genetics
Female
Fibroblasts--metabolism
Genes, Recessive
Glutarates--urine
Humans
Male
Mitochondria--metabolism
Mitochondrial Proteins--genetics
Molecular Sequence Data
Mutation--genetics
Organic Anion Transporters
Phenotype
Protein Structure, Tertiary
Retrospective Studies
Sequence Homology, Amino Acid
Stereoisomerism
Tandem Mass Spectrometry