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Missense mutations in-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause WalkerWarburg syndrome

Buysse, K; Riemersma, M; Powell, G; van Reeuwijk, J; Chitayat, D; Roscioli, T; Kamsteeg, E-J; ... van Bokhoven, H; + view all (2013) Missense mutations in-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause WalkerWarburg syndrome. HUMAN MOLECULAR GENETICS , 22 (9) pp. 1746-1754. 10.1093/hmg/ddt021.

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Type: Article
Title: Missense mutations in-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause WalkerWarburg syndrome
DOI: 10.1093/hmg/ddt021
Keywords: Science & Technology, Life Sciences & Biomedicine, Biochemistry & Molecular Biology, Genetics & Heredity, DYSTROPHIN-ASSOCIATED GLYCOPROTEINS, CONGENITAL MUSCULAR-DYSTROPHY, ALPHA-DYSTROGLYCAN, ABNORMAL GLYCOSYLATION, REQUIRES, BINDING, LIGAND, POMT1, FORM
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Cell and Developmental Biology
URI: http://discovery.ucl.ac.uk/id/eprint/1436129
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