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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:IdLiteratureReference:9908598
_displayNameA single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency
_timestamp2024-04-22 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
journalMol Genet Metab
pages602-6
pubMedIdentifier22264772
titleA single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency
volume105
year2012
(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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