Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG)-Reference-Cited by-同舟云学术

Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG)

Published:2019-01 Issue:1 Volume:62 Page:44-46
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Li Guoqiang,Xu Yufei,Hu Xuyun^ORCID,Li Niu,Yao Ruen,Yu Tingting,Wang Xiumin,Guo Weiwei,Wang Jian

Funder

National Natural Science Foundation of China

Shanghai Municipal Science and Technology Commission

Project of Shanghai Municipal Education Commission- Gaofeng Clinical Medicine

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference13 articles.

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3. Hypothesis: lobe A (COG1-4)-CDG causes a more severe phenotype than lobe B (COG5-8)-CDG;Haijes;J. Med. Genet.,2017

4. Congenital disorders of glycosylation: a concise chart of glycocalyx dysfunction;Hennet;Trends Biochem. Sci.,2015

5. Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!;Jaeken;J. Inherit. Metab. Dis.,2003

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