Condition: Phosphoglycerate Dehydrogenase Deficiency
rs267606949 in
LOC105378936;PHGDH gene and
Phosphoglycerate Dehydrogenase Deficiency
PMID 19235232 2009 Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.
PMID 11055895 2000 Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.
rs121907987 in
PHGDH gene and
Phosphoglycerate Dehydrogenase Deficiency
PMID 11751922 2002 V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme.
PMID 19235232 2009 Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.
PMID 11055895 2000 Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.