A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease. (Q44238023)
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scientific article published on 12 December 2012
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease. |
scientific article published on 12 December 2012 |
Statements
A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease (English)
Mercedes Martínez-Pardo
Begoña Merinero
Rosa Navarrete
Lourdes R Desviat
Magdalena Ugarte
Pilar Rodríguez-Pombo
12 December 2012
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