title: Identification of a IVS4-58delATG polymorphism in the human phosphomannomutase 2 (PMM2) gene.
authors.affiliation: Biochimie A, Hôpital Bichat-Claude Bernard, 46 rue Henri Huchard, 75877-Paris cedex 18, France.
authors.forename: S
authors.initials: S
authors.lastname: Vuillaumier-Barrot
authors.forename: C L
authors.initials: CL
authors.lastname: Bizec
authors.forename: G
authors.initials: G
authors.lastname: Durand
authors.forename: B
authors.initials: B
authors.lastname: Grandchamp
authors.forename: N
authors.initials: N
authors.lastname: Seta
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics; D006031:Glycosylation; D006801:Humans; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic / Q000235:genetics*; D011499:Protein Processing, Post-Translational / Q000235:genetics / Q000502:physiology
chemical_list: D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase