-
1
المؤلفون: Hudson H. Freeze, Harry Schachter
المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1792:925-930
مصطلحات موضوعية: Glycan, Glycosylation, Congenital muscular dystrophy, Diagnostic problem, Look into the future, Biology, N-Acetylglucosaminyltransferases, medicine.disease_cause, Genome, Article, 03 medical and health sciences, Congenital Disorders of Glycosylation, 0302 clinical medicine, Glycogene, medicine, Humans, Molecular Biology, Gene, 030304 developmental biology, chemistry.chemical_classification, Genetics, Congenital disease, 0303 health sciences, Mutation, Protein targets of glycosylation, Fucosyltransferases, Disease gene identification, Phenotype, 3. Good health, chemistry, Glycoprotein synthesis, biology.protein, Therapeutic problem, Molecular Medicine, Human genome, Glycoprotein, Classification problem, 030217 neurology & neurosurgery, Carbohydrate Metabolism, Inborn Errors