Novel Insights into Selected Disease-Causing Mutations within the SLC35A1 Gene Encoding the CMP-Sialic Acid Transporter

Congenital disorders of glycosylation (CDG) are a group of rare genetic and metabolic diseases caused by alterations in glycosylation pathways. Five patients bearing CDG-causing mutations in the SLC35A1 gene encoding the CMP-sialic acid transporter (CST) have been reported to date. In this study we...

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Detalles Bibliográficos
Autores principales: Szulc, Bożena, Zadorozhna, Yelyzaveta, Olczak, Mariusz, Wiertelak, Wojciech, Maszczak-Seneczko, Dorota
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7795627/
https://www.ncbi.nlm.nih.gov/pubmed/33396746
http://dx.doi.org/10.3390/ijms22010304

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7795627/
https://www.ncbi.nlm.nih.gov/pubmed/33396746
http://dx.doi.org/10.3390/ijms22010304

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