High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency)
| author | |
| created | [InstanceEdit:3781876] Jassal, B, 2013-06-28 |
| dbId | 3781859 |
| displayName | High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency) |
| journal | Am. J. Hum. Genet. |
| pages | 347-54 |
| pubMedIdentifier | 11156536 |
| schemaClass | LiteratureReference |
| title | High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency) |
| url | http://www.ncbi.nlm.nih.gov/pubmed/11156536 |
| volume | 68 |
| year | 2001 |
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