Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal alpha-dystroglycan O-mannosylation, independent from sialic acid

Moniek Riemersma, Julia Sandrock, Thomas J. Boltje, Christian Bull, Torben Heise, Angel Ashikov, Gosse J. Adema, Hans van Bokhoven, Dirk J. Lefeber

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)2241-2246
JournalHuman Molecular Genetics
Volume24
Issue number8
DOIs
Publication statusPublished - 15 Apr 2015

Cite this

Riemersma, M., Sandrock, J., Boltje, T. J., Bull, C., Heise, T., Ashikov, A., Adema, G. J., van Bokhoven, H., & Lefeber, D. J. (2015). Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal alpha-dystroglycan O-mannosylation, independent from sialic acid. Human Molecular Genetics, 24(8), 2241-2246. https://doi.org/10.1093/hmg/ddu742