Novel Insights into Selected Disease-Causing Mutations within the <i>SLC35A1</i> 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 <i>SLC35A1</i> gene encoding the CMP-sialic acid transporter (CST) have been reported to date...
Main Authors: | Bożena Szulc, Yelyzaveta Zadorozhna, Mariusz Olczak, Wojciech Wiertelak, Dorota Maszczak-Seneczko |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2020-12-01
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Series: | International Journal of Molecular Sciences |
Subjects: | |
Online Access: | https://www.mdpi.com/1422-0067/22/1/304 |
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