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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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Detalhes bibliográficos
Main Authors: Thiel, Christian, Lübke, Torben, Matthijs, Gert, von Figura, Kurt, Körner, Christian
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Microbiology 2006
Assuntos:
Acesso em linha: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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