共 50 条
- [46] CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME - NOT AN N-LINKED OLIGOSACCHARIDE PROCESSING DEFECT, BUT AN ABNORMALITY IN LIPID-LINKED OLIGOSACCHARIDE BIOSYNTHESIS JOURNAL OF CLINICAL INVESTIGATION, 1994, 94 (05): : 1901 - 1909
- [48] Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I BRAIN & DEVELOPMENT, 1999, 21 (04): : 223 - 228