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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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Detaylı Bibliyografya
Yayımlandı:Int J Mol Sci
Asıl Yazarlar: Szulc, Bożena, Zadorozhna, Yelyzaveta, Olczak, Mariusz, Wiertelak, Wojciech, Maszczak-Seneczko, Dorota
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: MDPI 2020
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7795627/
https://ncbi.nlm.nih.gov/pubmed/33396746
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22010304
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