A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34
| author | |
| created | [InstanceEdit:9864935] Rothfels, Karen, 2024-03-08 |
| dbId | 9864936 |
| displayName | A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34 |
| journal | Biochem Biophys Res Commun |
| pages | 804-9 |
| pubMedIdentifier | 1847055 |
| schemaClass | LiteratureReference |
| title | A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34 |
| url | http://www.ncbi.nlm.nih.gov/pubmed/1847055 |
| volume | 174 |
| year | 1991 |
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