Congenital disorder of glycosylation caused by mutation of ATP6AP1 gene (c.1036G>A) in a Chinese infant: A case report

BACKGROUND: The ATP6AP1 gene coding for the accessory protein Ac45 of the vacuolar-type adenosine triphosphatases (V-ATPase) is located on chromosome Xq28. Defects in certain subunits or accessory subunits of the V-ATPase can lead to congenital disorders of glycosylation (CDG). CDG is a group of met...

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Detalles Bibliográficos
Autores principales: Yang, Xia, Lv, Zi-Li, Tang, Qing, Chen, Xiu-Qi, Huang, Li, Yang, Mei-Xiong, Lan, Lian-Cheng, Shan, Qing-Wen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8462236/
https://www.ncbi.nlm.nih.gov/pubmed/34621841
http://dx.doi.org/10.12998/wjcc.v9.i26.7876

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8462236/
https://www.ncbi.nlm.nih.gov/pubmed/34621841
http://dx.doi.org/10.12998/wjcc.v9.i26.7876

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