Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).
Matthijs
G
G
Center for Human Genetics, University of Leuven, Leuven, B-3000, Belgium.
Schollen
E
E
Heykants
L
L
Grünewald
S
S
D001483:Base Sequence; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D009154:Mutation; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency / Q000235:genetics*
D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase