Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
| author | |
| created | [InstanceEdit:6782379] May, Bruce, 2015-06-07 |
| dbId | 6782365 |
| displayName | Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA) |
| journal | J. Med. Genet. |
| pages | 173-80 |
| pubMedIdentifier | 17056637 |
| schemaClass | LiteratureReference |
| title | Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA) |
| url | http://www.ncbi.nlm.nih.gov/pubmed/17056637 |
| volume | 44 |
| year | 2007 |
Referrals
© 2026 Reactome
