Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II

The conserved oligomeric Golgi (COG) complex is a heterooctameric complex that regulates intraGolgi trafficking and the integrity of the Golgi compartment in eukaryotic cells. Here, we describe a patient with a mild form of congenital disorder of glycosylation type II (CDG-II) that is caused by a de...

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Hlavní autoři: Foulquier, François, Vasile, Eliza, Schollen, Els, Callewaert, Nico, Raemaekers, Tim, Quelhas, Dulce, Jaeken, Jaak, Mills, Philippa, Winchester, Bryan, Krieger, Monty, Annaert, Wim, Matthijs, Gert
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 2006
Témata:
Biological Sciences
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1450151/
https://ncbi.nlm.nih.gov/pubmed/16537452
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0507685103
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