Identification of a IVS4-58delATG polymorphism in the human phosphomannomutase 2 (PMM2) gene.
Vuillaumier-Barrot
S
S
Biochimie A, Hôpital Bichat-Claude Bernard, 46 rue Henri Huchard, 75877-Paris cedex 18, France.
Bizec
C L
CL
Durand
G
G
Grandchamp
B
B
Seta
N
N
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
D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase