2004•PubMedRequires access

[Congenital myasthenic syndrome related to homozygous missense mutation in promoter region of acetylcholine receptor epsilon-subunit gene].

N I Shcherbakova, Sidorova Op, E Iu Menenkova, Galimova Gm, Iu V Kononenko, А.Г. Санадзе, V Ia Neretin

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Key concepts: Missense mutation, Congenital myasthenic syndrome, Medicine, Acetylcholine receptor, Gene, Mutation, Protein subunit, Genetics

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[Congenital myasthenic syndrome related to homozygous missense mutation in promoter region of acetylcholine receptor epsilon-subunit gene]. — Research Paper | ScholarLens