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A newly identified chromosomal microdeletion and an N-box mutation of the AChRε gene cause a congenital myasthenic syndrome

Lookup NU author(s): Dr Christoph Schmidt, Professor Hanns Lochmuller


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Publication metadata

Author(s): Lochmüller H; Schmidt C; Abicht A; Stucka R; Briguet A; Höpfner S; Song I-H; Pongratz D; Müller-Felber W; Ruegg MA

Publication type: Article

Publication status: Published

Journal: Brain

Year: 2002

Volume: 125

Issue: 5

Pages: 1005-1013

ISSN (print): 0006-8950

ISSN (electronic): 1460-2156

Publisher: Oxford University Press


DOI: 10.1093/brain/awf095


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