Identification of a IVS4 -58delATG polymorphism in the human phosphomannomutase 2 (PMM2) gene

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Bibliographic Details
Published in:Human mutation 2000-05, Vol.15 (5), p.486-486
Main Authors: Vuillaumier-Barrot, Sandrine, Bizec, Christiane Le, Durand, Geneviève, Grandchamp, Bernard, Seta, Nathalie
Format: Article
Language:English
Subjects:
Carbohydrate Metabolism, Inborn Errors - enzymology
Carbohydrate Metabolism, Inborn Errors - genetics
CDG Ia
Glycosylation
Humans
phosphomannomutase 2
Phosphotransferases (Phosphomutases) - deficiency
Phosphotransferases (Phosphomutases) - genetics
Phosphotransferases (Phosphomutases) - metabolism
PMM2
Polymorphism, Genetic - genetics
Protein Processing, Post-Translational - genetics
Protein Processing, Post-Translational - physiology
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ISSN:1059-7794
1098-1004
DOI:10.1002/(SICI)1098-1004(200005)15:5<486::AID-HUMU24>3.0.CO;2-V