Key features and clinical variability of COG6-CDG-Reference-Cited by-同舟云学术

Key features and clinical variability of COG6-CDG

Published:2015-11 Issue:3 Volume:116 Page:163-170
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Rymen Daisy,Winter Julia,Van Hasselt Peter M.,Jaeken Jaak,Kasapkara Cigdem,Gokçay Gulden,Haijes Hanneke,Goyens Philippe,Tokatli Aysegul,Thiel Christian,Bartsch Oliver,Hecht Jochen,Krawitz Peter,Prinsen Hubertus C.M.T.,Mildenberger Eva,Matthijs Gert,Kornak Uwe

Funder

EU E-Rare

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference23 articles.

1. Solving glycosylation disorders: fundamental approaches reveal complicated pathways;Freeze;Am. J. Hum. Genet.,2014

2. The Golgi puppet master: COG complex at center stage of membrane trafficking interactions;Willett;Histochem. Cell Biol.,2013

3. Re'COG'nition at the Golgi;Miller;Traffic,2012

4. Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder;Wu;Nat. Med.,2004

5. A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1–Cog8 interaction in COG complex formation;Foulquier;Hum. Mol. Genet.,2007

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