Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor ε subunit gene: Identification and functional characterization of six new mutations

Kinji Ohno, Polly A. Quiram, Margherita Milone, Hai Long Wang, Michel C. Harper, J. Ned Pruitt, Joan M. Brengman, Linda Pao, Kenneth H. Fischbeck, Thomas O. Crawford, Steven M. Sine, Andrew G. Engel

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Biochemistry, Genetics and Molecular Biology

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