Article
A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings.
Pediatric research - 1 Jun 2006
Dancourt Julia, Vuillaumier-Barrot Sandrine, de Baulny Helene Ogier, Sfaello Ignacio, Barnier Anne, le Bizec Christianne, Dupre Thierry, Durand Genevieve, Seta Nathalie, Moore Stuart E H
Abstract excerpt
Congenital disorders of glycosylation (CDG) type I (CDG I) are rare autosomal recessive diseases caused by deficiencies in the assembly of the dolichol-linked oligosaccharide (DLO) that is required for N-glycoprotein biosynthesis. CDG Ie is due to a defect in the synthesis of dolichyl-phosphoryl-mannose (Dol-P-Man), which is needed for DLO biosynthesis as well as for other glycosylation pathways. Human Dol-P-Man...
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