MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

Deficiencies in the pathway of N-glycan biosynthesis lead to severe multisystem diseases, known as congenital disorders of glycosylation (CDG). The clinical appearance of CDG is variable, and different types can be distinguished according to the gene that is altered. In this report, we describe the...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
Main Authors: Schenk, Barbara, Imbach, Timo, Frank, Christian G., Grubenmann, Claudia E., Raymond, Gerald V., Hurvitz, Haggit, Raas-Rotschild, Annick, Luder, Anthony S., Jaeken, Jaak, Berger, Eric G., Matthijs, Gert, Hennet, Thierry, Aebi, Markus
פורמט: Artigo
שפה:Inglês
יצא לאור: American Society for Clinical Investigation 2001
נושאים:
Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC200989/
https://ncbi.nlm.nih.gov/pubmed/11733564
תגים: הוספת תג
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