Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I.

Mizugishi, K

Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I. [electronic resource] - Brain & development Jun 1999 - 223-8 p. digital

Publication Type: Case Reports; Journal Article

0387-7604

10.1016/s0387-7604(99)00004-2 doi


Adolescent
Child
Congenital Disorders of Glycosylation--blood
DNA Mutational Analysis
Female
Humans
Isoelectric Focusing
Japan
Mutation, Missense
Phosphotransferases (Phosphomutases)--genetics
Polymerase Chain Reaction
Transferrin--analogs & derivatives