QR-Code

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...

Ausführliche Beschreibung

Gespeichert in:
Veröffentlicht in:J Clin Invest
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Clinical Investigation 2001
Schlagworte:
Article
Online-Zugang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC200989/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/11733564/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI13419
Tags: Tag hinzufügen
Keine Tags, Fügen Sie das erste Tag hinzu!

Ähnliche Einträge