A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review

BACKGROUND: The congenital disorder of glycosylation associated with ALG1 (ALG1‐CDG) is a rare autosomal recessive disease. Due to the deficiency of β1,4 mannosyltransferase caused by pathogenic variants in ALG1 gene, the assembly and processing of glycans in the protein glycosylation pathway are im...

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Detalles Bibliográficos
Autores principales: Xue, Yan, Zhao, Yiran, Wu, Bo, Shu, Jianbo, Yan, Dandan, Li, Dong, Yu, Xiaoli, Cai, Chunquan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10422073/
https://www.ncbi.nlm.nih.gov/pubmed/37204045
http://dx.doi.org/10.1002/mgg3.2197

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10422073/
https://www.ncbi.nlm.nih.gov/pubmed/37204045
http://dx.doi.org/10.1002/mgg3.2197

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