Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of alpha-Dystroglycan

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Volume
93
Pagination
29 - 41
DOI
10.1016/j.ajhg.2013.05.009
Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Issue
1
ISSN
0002-9297
Metadata
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Authors
Carss, KJ; Stevens, E; Foley, AR; Cirak, S; Riemersma, M; Torelli, S; Hoischen, A; Willer, T; van Scherpenzeel, M; Moore, SA
URI
http://qmro.qmul.ac.uk/xmlui/handle/123456789/15032
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Copyright © 2013 The American Society of Human Genetics. Open access under CC BY license