Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations

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Bibliographische Detailangaben
Veröffentlicht in:	Clinical genetics 2007-07, Vol.72 (1), p.63-65
Hauptverfasser:	Maselli, RA, Dris, H, Schnier, J, Cockrell, JL, Wollmann, RL
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Amino Acid Substitution Cell Line Exons Female Genes, Recessive Green Fluorescent Proteins - genetics Green Fluorescent Proteins - metabolism Heterozygote Humans Infant Male Muscle Proteins - genetics Muscle Proteins - metabolism Myasthenic Syndromes, Congenital - genetics Pedigree Point Mutation Receptors, Nicotinic - genetics Receptors, Nicotinic - metabolism Recombinant Fusion Proteins - genetics Recombinant Fusion Proteins - metabolism Transfection
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