Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR

Published 2013 View Full Article

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Title
Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR
Authors
Keywords
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Journal
HUMAN MOLECULAR GENETICS
Volume 22, Issue 14, Pages 2905-2913
Publisher
Oxford University Press (OUP)
Online
2013-04-09
DOI
10.1093/hmg/ddt145
References
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