methylmalonyl-CoA epimerase, mitochondrial precursor [Homo sapiens]

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Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency. [Biochim Biophys Acta Mol Basis...]
Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency.
Heuberger K, Bailey HJ, Burda P, Chaikuad A, Krysztofinska E, Suormala T, Bürer C, Lutz S, Fowler B, Froese DS, et al. Biochim Biophys Acta Mol Basis Dis. 2019 Jun 1; 1865(6):1265-1272. Epub 2019 Jan 22.
Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene. [Mol Genet Metab Rep. 2016]
Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene.
Waters PJ, Thuriot F, Clarke JT, Gravel S, Watkins D, Rosenblatt DS, Lévesque S. Mol Genet Metab Rep. 2016 Dec; 9:19-24. Epub 2016 Sep 24.
Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE). [Hum Mutat. 2007]
Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE).
Gradinger AB, Bélair C, Worgan LC, Li CD, Lavallée J, Roquis D, Watkins D, Rosenblatt DS. Hum Mutat. 2007 Oct; 28(10):1045.

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NP_115990 [Domain Mapping of Disease Mut...]
NP_115990
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

methylmalonyl-CoA epimerase, mitochondrial precursor [Homo sapiens]
methylmalonyl-CoA epimerase, mitochondrial precursor [Homo sapiens]
gi|188035928|ref|NP_115990.3|

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