Identification of Two Novel Mutations in COG5 Causing Congenital Disorder of Glycosylation

OBJECTIVE: This study reports a Chinese patient with a Congenital Disorder of Glycosylation (CDG) caused by compound-heterozygous mutations in the Conserved Oligomeric Golgi 5 (COG5) gene and thereby offers concrete evidence for early diagnosis. METHODS: The clinical manifestations, the results of l...

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Detalles Bibliográficos
Autores principales: Wang, Xi, Han, Lin, Wang, Xiao-Yan, Wang, Jian-Hong, Li, Xiao-Meng, Jin, Chun-Hua, Wang, Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7056739/
https://www.ncbi.nlm.nih.gov/pubmed/32174980
http://dx.doi.org/10.3389/fgene.2020.00168

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7056739/
https://www.ncbi.nlm.nih.gov/pubmed/32174980
http://dx.doi.org/10.3389/fgene.2020.00168

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