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

Hum Mutat. 2000 May;15(5):486. doi: 10.1002/(SICI)1098-1004(200005)15:5<486::AID-HUMU24>3.0.CO;2-V.

Authors

S Vuillaumier-Barrot¹, C L Bizec, G Durand, B Grandchamp, N Seta

Affiliation

¹ Biochimie A, Hôpital Bichat-Claude Bernard, 46 rue Henri Huchard, 75877-Paris cedex 18, France.

PMID: 10790224
DOI: 10.1002/(SICI)1098-1004(200005)15:5<486::AID-HUMU24>3.0.CO;2-V

No abstract available

MeSH terms

Carbohydrate Metabolism, Inborn Errors / enzymology
Carbohydrate Metabolism, Inborn Errors / genetics
Glycosylation
Humans
Phosphotransferases (Phosphomutases) / deficiency
Phosphotransferases (Phosphomutases) / genetics*
Phosphotransferases (Phosphomutases) / metabolism
Polymorphism, Genetic / genetics*
Protein Processing, Post-Translational / genetics
Protein Processing, Post-Translational / physiology

Substances

Phosphotransferases (Phosphomutases)
phosphomannomutase