Reactome | Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of ?-dystroglycan

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Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of ?-dystroglycan Show undefined attributes

author	[Person:8931661] Stevens, E [Person:8931641] Carss, KJ [Person:6803202] Cirak, S [Person:6803187] Foley, AR [Person:5615643] Torelli, S [Person:5617132] Willer, T [Person:6783930] Tambunan, DE [Person:8931665] Yau, S [Person:8931645] Brodd, L [Person:5615635] Sewry, CA [Person:5615551] Feng, L [Person:8931638] Haliloglu, G [Person:8931640] Orhan, D [Person:4420023] Dobyns, WB [Person:3318481] Enns, GM [Person:8931662] Manning, M [Person:8931664] Krause, A [Person:4839781] Salih, MA [Person:5615581] Walsh, CA [Person:8931646] Hurles, M [Person:2328163] Campbell, KP [Person:8931650] Manzini, MC
created	[InstanceEdit:8931674] Jassal, Bijay, 2016-07-18
dbId	8931643
displayName	Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of ?-dystroglycan
journal	Am. J. Hum. Genet.
modified	[InstanceEdit:8953528] D'Eustachio, Peter, 2016-12-23
pages	354-65
pubMedIdentifier	23453667
schemaClass	LiteratureReference
title	Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of ?-dystroglycan
url	http://www.ncbi.nlm.nih.gov/pubmed/23453667
volume	92
year	2013

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[Reaction:R-HSA-8931648] B3GALNT2 transfers GalNAc to GlcNAc-Man-DAG1

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