Congenital Disorder of Glycosylation Type Ik (CDG-Ik): A Defect of Mannosyltransferase I

This study describes the discovery of a new inherited disorder of glycosylation named “CDG-Ik.” CDG-Ik (congenital disorder of glycoslyation type Ik) is based on a defect of human mannosyltransferase I (MT-I [MIM 605907]), an enzyme necessary for the elongation of dolichol-linked chitobiose during N...

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Main Authors: Kranz, Christian, Denecke, Jonas, Lehle, Ludwig, Sohlbach, Kristina, Jeske, Stefanie, Meinhardt, Friedhelm, Rossi, Rainer, Gudowius, Sonja, Marquardt, Thorsten
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2004
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1182267/
https://ncbi.nlm.nih.gov/pubmed/14973782
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