Reference on EC 2.4.2.61 - alpha-dystroglycan beta1,4-xylosyltransferase
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REF. 
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Vuillaumier-Barrot, S.; Bouchet-Seraphin, C.; Chelbi, M.; Devisme, L.; Quentin, S.; Gazal, S.; Laquerriere, A.; Fallet-Bianco, C.; Loget, P.; Odent, S.; Carles, D.; Bazin, A.; Aziza, J.; Clemenson, A.; Guimiot, F.; Bonniere, M.; Monnot, S.; Bole-Feysot, C.; Bernard, J.P.; Loeuillet, L.; Gonzales, M.; Socha, K.; Grandchamp, B.; Atti-Bitach, T.; Encha-Razavi, F.; Seta, N.
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly
Am. J. Hum. Genet.
91
1135-1143
2012
Homo sapiens (Q9Y2B1)
Manya, H.; Yamaguchi, Y.; Kanagawa, M.; Kobayashi, K.; Tajiri, M.; Akasaka-Manya, K.; Kawakami, H.; Mizuno, M.; Wada, Y.; Toda, T.; Endo, T.
The muscular dystrophy gene TMEM5 encodes a ribitol beta1,4-xlosyltransferase required for the functional glycosylation of dystroglycan
J. Biol. Chem.
291
24618-24627
2016
Homo sapiens (Q9Y2B1), Homo sapiens
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