Genetic linkage analysis of epidermolysis bullosa simplex, Köbner type

Prenatal diagnosis of the carbohydrate-d

Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling

✍ Joanne Charlwood; Peter Clayton; Geoffrey Keir; Nasi Mian; Elisabeth Young; Brya 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 173 KB

Two pregnancies at risk for the carbohydrate-deficient glycoprotein syndrome Type 1A (CDG1A, phosphomannomutase deficient) were monitored by enzyme and genetic linkage analyses. The index case in both families had a proven deficiency of phosphomannomutase (PMM). An unaffected fetus was predicted in