Nota, Benjamin <br/><br/>
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 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2013.03.009  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Anion Transport Proteins--genetics<br/>Biomarkers--analysis<br/>Brain Diseases, Metabolic, Inborn--etiology<br/>Case-Control Studies<br/>Cells, Cultured<br/>Chromatography, Liquid<br/>Citric Acid--metabolism<br/>Exome--genetics<br/>Female<br/>Fibroblasts--metabolism<br/>Genes, Recessive<br/>Glutarates--urine<br/>Humans<br/>Male<br/>Mitochondria--metabolism<br/>Mitochondrial Proteins--genetics<br/>Molecular Sequence Data<br/>Mutation--genetics<br/>Organic Anion Transporters<br/>Phenotype<br/>Protein Structure, Tertiary<br/>Retrospective Studies<br/>Sequence Homology, Amino Acid<br/>Stereoisomerism<br/>Tandem Mass Spectrometry