A New Intronic Mutation in the DPM1 Gene Is Associated With a Milder Form of CDG Ie in Two French Siblings-Reference-Cited by-同舟云学术

A New Intronic Mutation in the DPM1 Gene Is Associated With a Milder Form of CDG Ie in Two French Siblings

Published:2006-06 Issue:6 Volume:59 Page:835-839
ISSN:0031-3998
Container-title:Pediatric Research
language:
Short-container-title:Pediatr Res

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Reference20 articles.

1. Biological roles of oligosaccharides: all of the theories are correct

2. Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3

3. Identification of defects in glycosylphosphatidylinositol anchor biosynthesis in the Thy-1 expression mutants

4. Protein C-Mannosylation Is Enzyme-catalysed and Uses Dolichyl-Phosphate-Mannose as a Precursor

5. Altered glycan structures: the molecular basis of congenital disorders of glycosylation

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4. Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation;Molecular Genetics and Metabolism;2021-01

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