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Carss, KJ; Stevens, E; Foley, AR; Cirak, S; Riemersma, M; Torelli, S; Hoischen, A; ... Muntoni, F; + view all Carss, KJ; Stevens, E; Foley, AR; Cirak, S; Riemersma, M; Torelli, S; Hoischen, A; Willer, T; van Scherpenzeel, M; Moore, SA; Messina, S; Bertini, E; Boennemann, CG; Abdenur, JE; Grosmann, CM; Kesari, A; Punetha, J; Quinlivan, R; Waddell, LB; Young, HK; Wraige, E; Yau, S; Brodd, L; Feng, L; Sewry, C; MacArthur, DG; North, KN; Hoffinan, E; Stemple, DL; Hurles, ME; van Bokhoven, H; Campbell, KP; Lefeber, DJ; Lin, Y-Y; Muntoni, F; - view fewer (2013) Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of alpha-Dystroglycan. AMERICAN JOURNAL OF HUMAN GENETICS , 93 (1) pp. 29-41. 10.1016/j.ajhg.2013.05.009.

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Type:	Article
Title:	Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of alpha-Dystroglycan
DOI:	10.1016/j.ajhg.2013.05.009
Keywords:	Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, WALKER-WARBURG-SYNDROME, CELL-WALL INTEGRITY, O-GLYCAN STRUCTURES, DEFECTIVE GLYCOSYLATION, ABNORMAL GLYCOSYLATION, GLYCOPROTEIN COMPLEX, SKELETAL-MUSCLE, GENE, ZEBRAFISH, LAMININ
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 Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Division of Psychiatry UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Cardiovascular Science UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Cardiovascular Science > Clinical Science UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Health Informatics UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Health Informatics > Clinical Epidemiology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Development Bio and Cancer Prog UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Developmental Neurosciences Prog
URI:	http://discovery.ucl.ac.uk/id/eprint/1397372

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