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.

1. Congenital disorders of glycosylation: the Saudi experience;Alsubhi;Am. J. Med. Genet. A,2017

2. COG complex complexities: detailed characterization of a complete set of HEK293T cells lacking individual COG subunits;Bailey Blackburn;Front Cell Dev. Biol.,2016

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

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The Swedish COG6‐CDG experience and a comprehensive literature review;JIMD Reports;2022-09-21

2. Quality control of protein complex assembly by the ubiquitin–proteasome system;Trends in Cell Biology;2022-08

3. COG6‐CDG : Novel variants and novel malformation;Birth Defects Research;2022-01-23

4. Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly;Molecular Genetics & Genomic Medicine;2021-07-31

5. Liver Involvement in Congenital Disorders of Glycosylation: A Systematic Review;Journal of Pediatric Gastroenterology & Nutrition;2021-06-24