Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex
| author | |
| created | [InstanceEdit:9864986] Rothfels, Karen, 2024-03-08 |
| dbId | 9864987 |
| displayName | Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex |
| journal | Am J Hum Genet |
| pages | 297-304 |
| pubMedIdentifier | 8037208 |
| schemaClass | LiteratureReference |
| title | Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex |
| url | http://www.ncbi.nlm.nih.gov/pubmed/8037208 |
| volume | 55 |
| year | 1994 |
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