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Targeted Disruption of the Mouse Phosphomannomutase 2 Gene Causes Early Embryonic Lethality
Mutations in the cytosolic enzyme phosphomannomutase 2 (PMM2), which catalyzes the conversion of mannose-6-phosphate to mannose-1-phosphate, cause the most common form of congenital disorders of glycosylation, termed CDG-Ia. It is an inherited multisystemic disease with severe neurological impairmen...
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| Hauptverfasser: | , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
American Society for Microbiology
2006
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1592760/ https://ncbi.nlm.nih.gov/pubmed/16847317 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1128/MCB.02391-05 |
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