An Overview of Combined D-2- and L-2-hydroxyglutaric Aciduria: Functional Analysis of CIC Variants
Ana Pop,Monique Williams,Eduard A. Struys,Magnus Monné,Erwin E. W. Jansen,Anna De Grassi,Warsha A. Kanhai,Pasquale Scarcia,Matilde R. Fernandez Ojeda,Vito Porcelli,Silvy J. M. van Dooren, Pascal Lennertz,Benjamin Nota,Jose E. Abdenur,David Coman,Anibh Martin Das,Areeg El-Gharbawy,Jean-Marc Nuoffer,Branka Polic,René Santer,Natalie Weinhold,Britton Zuccarelli,Ferdinando Palmieri,Luigi Palmieri,Gajja S. Salomons Journal of inherited metabolic disease（2017）
关键词
Mitochondrial citrate carrier,SLC25A1,Structure-function correlations,Residue specific score,Structural homology,Krebs cycle intermediates
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