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Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

Mendelian DisorderGenetic DisorderPhosphomannomutase GeneGeneticsInherited Metabolic DiseaseGlycobiologyChromosome 16P13Molecular BiologyMolecular GeneticsJaeken SyndromeMedicineProtein Phosphorylation