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Details on Person Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients
| Class:Id | LiteratureReference:9864978 |
|---|---|
| _displayName | Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients |
| _timestamp | 2024-03-08 21:20:07 |
| author | [Person:9864946] Chuang, J L [Person:4663834] Davie, J R [Person:9864976] Chinsky, J M [Person:9864939] Wynn, R M [Person:9864934] Cox, R P [Person:9864932] Chuang, D T |
| created | [InstanceEdit:9864977] Rothfels, Karen, 2024-03-08 |
| journal | J Clin Invest |
| pages | 954-63 |
| pubMedIdentifier | 7883996 |
| title | Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients |
| volume | 95 |
| year | 1995 |
| (literatureReference) | [EntityWithAccessionedSequence:9865040] G290R BCKDHA [mitochondrial matrix] [Homo sapiens] [FailedReaction:9865121] BCKDHA or BCKDHB loss-of-function mutants don't synthesize BCAA-CoA [Homo sapiens] |
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No pathways have been reviewed or authored by Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients (9864978)
