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Details on Person A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency
| Class:Id | LiteratureReference:9908598 |
|---|---|
| _displayName | A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency |
| _timestamp | 2024-04-22 20:46:14 |
| author | [Person:9908590] Morscher, Raphael J [Person:9908599] Grünert, Sarah Catharina [Person:9908595] Bürer, Celine [Person:3245897] Burda, Patricie [Person:70763] Suormala, T [Person:3000255] Fowler, Brian [Person:70762] Baumgartner, MR |
| created | [InstanceEdit:9908600] Rothfels, Karen, 2024-04-22 |
| journal | Mol Genet Metab |
| pages | 602-6 |
| pubMedIdentifier | 22264772 |
| title | A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency |
| volume | 105 |
| year | 2012 |
| (literatureReference) | [FailedReaction:9909466] MCCC mutants don't synthesize beta-methylglutaconyl-CoA [Homo sapiens] [EntityWithAccessionedSequence:9908676] R385S Btn-MCCC1 [mitochondrial matrix] [Homo sapiens] |
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No pathways have been reviewed or authored by A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency (9908598)
