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

Missense MutationsMendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseGlycobiologyMolecular BiologyPhosphomannomutase 2Japanese SiblingsMolecular GeneticsMedicineProtein PhosphorylationGlycosylation