No abstract available
Publication types
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Case Reports
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Sequence
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Amino Acid Substitution
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Cell Line
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Exons
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Female
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Genes, Recessive
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Green Fluorescent Proteins / genetics
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Green Fluorescent Proteins / metabolism
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Heterozygote
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Humans
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Infant
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Male
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Muscle Proteins / genetics*
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Muscle Proteins / metabolism
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Myasthenic Syndromes, Congenital / genetics*
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Pedigree
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Point Mutation*
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Receptors, Nicotinic / genetics
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Receptors, Nicotinic / metabolism
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Recombinant Fusion Proteins / genetics
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Recombinant Fusion Proteins / metabolism
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Transfection
Substances
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Muscle Proteins
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Receptors, Nicotinic
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Recombinant Fusion Proteins
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peripheral membrane protein 43K
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Green Fluorescent Proteins