DOI:
10.1055/s-00000041
Neuropediatrics
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References
Pind S, Slominski E, Mauthe J , et al.
V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme.
J Biol Chem 2002;
277 (9) 7136-7143
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