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CLYBL is a polymorphic human enzyme with malate synthase and β-methylmalate synthase activity.
Hum Mol Genet. 2014 May 1;23(9):2313-23. doi: 10.1093/hmg/ddt624. Epub 2013 Dec 11.
Hum Mol Genet. 2014.
PMID: 24334609
Free PMC article.
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, Laskowski A, Garone C, Liu S, Jaffe DB, Christodoulou J, Fletcher JM, Bruno DL, Goldblatt J, Dimauro S, Thorburn DR, Mootha VK.
Calvo SE, et al.
Sci Transl Med. 2012 Jan 25;4(118):118ra10. doi: 10.1126/scitranslmed.3003310.
Sci Transl Med. 2012.
PMID: 22277967
Free PMC article.
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