| http://purl.uniprot.org/citations/8651643 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8651643 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8651643 | http://www.w3.org/2000/01/rdf-schema#comment | "Point mutations in the genes encoding the acetylcholine receptor (AChR) subunits have been recognized in some patients with slow-channel congenital myasthenic syndromes (CMS). Clinical, electrophysiological, and pathological differences between these patients may be due to the distinct effects of individual mutations. We report that a spontaneous mutation of the beta subunit that interrupts the leucine ring of the AChR channel gate causes an eightfold increase in channel open time and a severe CMS characterized by severe endplate myopathy and extensive remodeling of the postsynaptic membrane. The pronounced abnormalities in neuromuscular synaptic architecture and function, muscle fiber damage and weakness, resulting from a single point mutation are a dramatic example of a mutation having a dominant gain of function and of hereditary excitotoxicity."xsd:string |
| http://purl.uniprot.org/citations/8651643 | http://purl.org/dc/terms/identifier | "doi:10.1002/ana.410390607"xsd:string |
| http://purl.uniprot.org/citations/8651643 | http://purl.org/dc/terms/identifier | "doi:10.1002/ana.410390607"xsd:string |
| http://purl.uniprot.org/citations/8651643 | http://purl.uniprot.org/core/author | "Cornblath D.R."xsd:string |
| http://purl.uniprot.org/citations/8651643 | http://purl.uniprot.org/core/author | "Cornblath D.R."xsd:string |
| http://purl.uniprot.org/citations/8651643 | http://purl.uniprot.org/core/author | "Gammack J."xsd:string |
| http://purl.uniprot.org/citations/8651643 | http://purl.uniprot.org/core/author | "Gammack J."xsd:string |
| http://purl.uniprot.org/citations/8651643 | http://purl.uniprot.org/core/author | "Gomez C.M."xsd:string |
| http://purl.uniprot.org/citations/8651643 | http://purl.uniprot.org/core/author | "Gomez C.M."xsd:string |
| http://purl.uniprot.org/citations/8651643 | http://purl.uniprot.org/core/author | "Kuncl R.W."xsd:string |
| http://purl.uniprot.org/citations/8651643 | http://purl.uniprot.org/core/author | "Kuncl R.W."xsd:string |
| http://purl.uniprot.org/citations/8651643 | http://purl.uniprot.org/core/author | "Lasalde J."xsd:string |
| http://purl.uniprot.org/citations/8651643 | http://purl.uniprot.org/core/author | "Lasalde J."xsd:string |
| http://purl.uniprot.org/citations/8651643 | http://purl.uniprot.org/core/author | "Lehar M."xsd:string |
| http://purl.uniprot.org/citations/8651643 | http://purl.uniprot.org/core/author | "Lehar M."xsd:string |
| http://purl.uniprot.org/citations/8651643 | http://purl.uniprot.org/core/author | "Maselli R."xsd:string |
| http://purl.uniprot.org/citations/8651643 | http://purl.uniprot.org/core/author | "Maselli R."xsd:string |
| http://purl.uniprot.org/citations/8651643 | http://purl.uniprot.org/core/author | "McNamee M."xsd:string |
| http://purl.uniprot.org/citations/8651643 | http://purl.uniprot.org/core/author | "McNamee M."xsd:string |
| http://purl.uniprot.org/citations/8651643 | http://purl.uniprot.org/core/author | "Tamamizu S."xsd:string |
| http://purl.uniprot.org/citations/8651643 | http://purl.uniprot.org/core/author | "Tamamizu S."xsd:string |
| http://purl.uniprot.org/citations/8651643 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/8651643 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |