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

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

21 Citations (Scopus)

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Medicine & Life Sciences