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

Zoltowska K., Webster R., Finlayson S., Maxwell S., Cossins J., Müller J., Lochmüller H., Beeson D.

DOI

10.1093/hmg/ddt145

Type

Journal article

Journal

Human Molecular Genetics

Publisher

Oxford University Press (OUP)

Publication Date

15/07/2013

Volume

22

Pages

2905 - 2913

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