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Frameshift and splice-site mutations in acetylcholine receptor (AChR) epsilon subunit gene in five Turkish kinships with congenital myasthenic syndromes (CMS)

Kinji Ohno, Banu Anlar, Emire Ozdirim, Joan M. Brengman, Jan De Bleecker, Andrew Engel

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Key concepts: Frameshift mutation, Congenital myasthenic syndrome, Acetylcholine receptor, Genetics, Protein subunit, Gene, Turkish, Exon

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Frameshift and splice-site mutations in acetylcholine receptor (AChR) epsilon subunit gene in five Turkish kinships with congenital myasthenic syndromes (CMS) — Research Paper | ScholarLens