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V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme.
J Biol Chem. 2002 Mar 1;277(9):7136-43. doi: 10.1074/jbc.M111419200. Epub 2001 Dec 20.
J Biol Chem. 2002.
PMID: 11751922
Free article.
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.
Klomp LW, de Koning TJ, Malingré HE, van Beurden EA, Brink M, Opdam FL, Duran M, Jaeken J, Pineda M, Van Maldergem L, Poll-The BT, van den Berg IE, Berger R.
Klomp LW, et al.
Am J Hum Genet. 2000 Dec;67(6):1389-99. doi: 10.1086/316886. Epub 2000 Oct 27.
Am J Hum Genet. 2000.
PMID: 11055895
Free PMC article.
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