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Details on Person Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD)
| Class:Id | LiteratureReference:9865006 |
|---|---|
| _displayName | Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD) |
| _timestamp | 2024-03-08 21:20:36 |
| author | [Person:9865008] Wang, Yue-Ping [Person:9865007] Qi, Man-Long [Person:9865004] Li, Ting-Ting [Person:9865003] Zhao, Yun-Jing |
| created | [InstanceEdit:9865005] Rothfels, Karen, 2024-03-08 |
| journal | Gene |
| pages | 112-5 |
| pubMedIdentifier | 22326532 |
| title | Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD) |
| volume | 498 |
| year | 2012 |
| (literatureReference) | [EntityWithAccessionedSequence:9865060] Q346R BCKDHB [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9865071] R170H BCKDHB [mitochondrial matrix] [Homo sapiens] |
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No pathways have been reviewed or authored by Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD) (9865006)
