RFT1 deficiency in three novel CDG patients

The medical significance of N-glycosylation is underlined by a group of inherited human disorders called Congenital Disorders of Glycosylation (CDG). One key step in the biosynthesis of the Glc₃Man₉GlcNAc₂-PP-dolichol precursor, essential for N-glycosylation, is the translocation of Man₅GlcNAc₂-PP-d...

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Veröffentlicht in:	Human mutation 2009-10, Vol.30 (10), p.1428-1434
Hauptverfasser:	Vleugels, Wendy, Haeuptle, Micha A, Ng, Bobby G, Michalski, Jean-Claude, Battini, Roberta, Dionisi-Vici, Carlo, Ludman, Mark D, Jaeken, Jaak, Foulquier, François, Freeze, Hudson H, Matthijs, Gert, Hennet, Thierry
Format:	Artikel
Sprache:	eng
Schlagworte:	Carbohydrate Metabolism, Inborn Errors - genetics CDG Cells, Cultured Chromatography, High Pressure Liquid dolichol Female Genetic Complementation Test glycosylation Humans Male Membrane Glycoproteins - genetics Phenotype RFT1
Online-Zugang:	Volltext
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