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 Glc3Man9Glc-NAc2-PP-dolichol precursor, essential for N-glycosylation, is the translocation of Man5GlcNAc2-PP-...

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主要な著者: Vleugels, Wendy, Haeuptle, Micha A., Ng, Bobby G., Michalski, Jean-Claude, Battini, Roberta, Dionisi-Vici, Carlo, Ludman, Mark D., Jaeken, Jaak, Foulquier, Franc-ois, Freeze, Hudson H., Matthijs, Gert, Hennet, Thierry
フォーマット: Artigo
言語:Inglês
出版事項: 2009
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3869400/
https://ncbi.nlm.nih.gov/pubmed/19701946
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21085
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