| http://purl.uniprot.org/citations/10508990 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10508990 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10508990 | http://www.w3.org/2000/01/rdf-schema#comment | "Long QT syndrome (LQTS) is a heterogeneous disorder caused by mutations of at least five different loci. Three of these, LQT1, LQT2, and LQT5, encode potassium channel subunits. LQT3 encodes the cardiac-specific sodium channel, SCN5A. Previously reported LQTS-associated mutations of SCN5A include a recurring three amino acid deletion (DeltaKPQ1505-1507) in four different families, and four different missense mutations. We have examined the SCN5A gene in 88 index cases with LQTS, including four with Jervell and Lange-Nielsen syndrome and the remainder with Romano-Ward syndrome. Screening portions of DIII-DIV, where mutations have previously been found, showed that none of these patients has the three amino acid deletion, DeltaKPQ1505-1507, or the other four known mutations. We identified a novel missense mutation, T1645M, in the DIV; S4 voltage sensor immediately adjacent to the previously reported mutation R1644H. We also examined all of the additional pore-forming regions and voltage-sensing regions and discovered another novel mutation, T1304M, at the voltage-sensing region DIII; S4. Neither T1645M nor T1304M were seen in a panel of unaffected control individuals. Five of six T1304M gene carriers were symptomatic. In contrast to previous studies, QT(onset-c) was not a sensitive indicator of SCN5A-associated LQTS, at least in this family. These data suggest that mutations of SCN5A are responsible for only a small proportion of LQTS cases."xsd:string |
| http://purl.uniprot.org/citations/10508990 | http://purl.org/dc/terms/identifier | "doi:10.1002/(sici)1096-8628(19991029)86:5<470::aid-ajmg13>3.0.co;2-y"xsd:string |
| http://purl.uniprot.org/citations/10508990 | http://purl.org/dc/terms/identifier | "doi:10.1002/(sici)1096-8628(19991029)86:5<470::aid-ajmg13>3.0.co;2-y"xsd:string |
| http://purl.uniprot.org/citations/10508990 | http://purl.uniprot.org/core/author | "Beggs A.H."xsd:string |
| http://purl.uniprot.org/citations/10508990 | http://purl.uniprot.org/core/author | "Beggs A.H."xsd:string |
| http://purl.uniprot.org/citations/10508990 | http://purl.uniprot.org/core/author | "Wattanasirichaigoon D."xsd:string |
| http://purl.uniprot.org/citations/10508990 | http://purl.uniprot.org/core/author | "Wattanasirichaigoon D."xsd:string |
| http://purl.uniprot.org/citations/10508990 | http://purl.uniprot.org/core/author | "Duggal P."xsd:string |
| http://purl.uniprot.org/citations/10508990 | http://purl.uniprot.org/core/author | "Duggal P."xsd:string |
| http://purl.uniprot.org/citations/10508990 | http://purl.uniprot.org/core/author | "Vesely M.R."xsd:string |
| http://purl.uniprot.org/citations/10508990 | http://purl.uniprot.org/core/author | "Vesely M.R."xsd:string |
| http://purl.uniprot.org/citations/10508990 | http://purl.uniprot.org/core/author | "Blume E.D."xsd:string |
| http://purl.uniprot.org/citations/10508990 | http://purl.uniprot.org/core/author | "Blume E.D."xsd:string |
| http://purl.uniprot.org/citations/10508990 | http://purl.uniprot.org/core/author | "Edwards S.B."xsd:string |
| http://purl.uniprot.org/citations/10508990 | http://purl.uniprot.org/core/author | "Edwards S.B."xsd:string |
| http://purl.uniprot.org/citations/10508990 | http://purl.uniprot.org/core/author | "Levine J.C."xsd:string |
| http://purl.uniprot.org/citations/10508990 | http://purl.uniprot.org/core/author | "Levine J.C."xsd:string |
| http://purl.uniprot.org/citations/10508990 | http://purl.uniprot.org/core/author | "Wolff G.S."xsd:string |
| http://purl.uniprot.org/citations/10508990 | http://purl.uniprot.org/core/author | "Wolff G.S."xsd:string |
| http://purl.uniprot.org/citations/10508990 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10508990 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10508990 | http://purl.uniprot.org/core/name | "Am. J. Med. Genet."xsd:string |
| http://purl.uniprot.org/citations/10508990 | http://purl.uniprot.org/core/name | "Am. J. Med. Genet."xsd:string |