Gain-of-glycosylation mutations
Author:
Publisher
Elsevier BV
Subject
Developmental Biology,Genetics
Reference69 articles.
1. Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS;Aebi;Glycoconj J,1999
2. Genetic defects in the human glycome;Freeze;Nat Rev Genet,2006
3. Mass spectrometry for congenital disorders of glycosylation, CDG;Wada;J Chromatogr B Analyt Technol BiomedLife Sci,2006
4. Loss of glycosylation associated with the T183A mutation in human prion disease;Grasbon-Frodl;Acta Neuropathol (Berl),2004
5. A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD);Wrobe;J Inherit Metab Dis,2000
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