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Details on Person 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening
| Class:Id | LiteratureReference:9908587 |
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| _displayName | 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening |
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| _timestamp | 2024-04-22 20:45:59 |
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| author | [Person:9908586] Dantas, Maria Fernanda
[Person:70763] Suormala, T
[Person:9908585] Randolph, Ann
[Person:3149534] Coelho, David
[Person:3000255] Fowler, Brian
[Person:70630] Valle, David
[Person:70762] Baumgartner, MR |
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| created | [InstanceEdit:9908588] Rothfels, Karen, 2024-04-22 |
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| journal | Hum Mutat |
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| pages | 164 |
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| pubMedIdentifier | 16010683 |
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| title | 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening |
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| volume | 26 |
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| year | 2005 |
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| (literatureReference) | [EntityWithAccessionedSequence:9908676] R385S Btn-MCCC1 [mitochondrial matrix] [Homo sapiens]
[EntityWithAccessionedSequence:9909449] A456V MCCC2 [mitochondrial matrix] [Homo sapiens]
[EntityWithAccessionedSequence:9909469] H190Y MCCC2 [mitochondrial matrix] [Homo sapiens]
[FailedReaction:9909466] MCCC mutants don't synthesize beta-methylglutaconyl-CoA [Homo sapiens] |
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