| http://purl.uniprot.org/citations/10090529 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10090529 | http://www.w3.org/2000/01/rdf-schema#comment | "Congenital long QT syndrome (LQTS) is characterised by prolongation of the QT interval on ECG and cardiac arrhythmias, syncopes and sudden death. A rapid and reliable genetic diagnosis of the disease may be of great importance for diagnosis and treatment of LQTS. Mutations in the KVLQT1 gene, encoding a potassium-channel subunit of importance for the depolarisation of cardiac myocytes, is believed to be associated with 50% of all LQTS cases. Our data confirms that KvLQT1 isoform 1 is encoded by 16 exons, and not 15, as reported previously. We have used genomic DNA sequences to design intronic PCR primers for amplification of 15 exons of KVLQT1 and optimised a non-radioactive single stranded conformation polymorphism/heteroduplex (SSCP/HD) method for detection of mutations in KVLQT1. The sensitivity of the method was 100% when it was tested on 15 in vitro constructed mutants. By multiplexing the PCR amplification of KVLQT1, it is possible to cover all 15 exons in four PCR reactions."xsd:string |
| http://purl.uniprot.org/citations/10090529 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0009-8981(98)00177-6"xsd:string |
| http://purl.uniprot.org/citations/10090529 | http://purl.uniprot.org/core/author | "Vuust J."xsd:string |
| http://purl.uniprot.org/citations/10090529 | http://purl.uniprot.org/core/author | "Andersen P.S."xsd:string |
| http://purl.uniprot.org/citations/10090529 | http://purl.uniprot.org/core/author | "Christiansen M."xsd:string |
| http://purl.uniprot.org/citations/10090529 | http://purl.uniprot.org/core/author | "Larsen L.A."xsd:string |
| http://purl.uniprot.org/citations/10090529 | http://purl.uniprot.org/core/author | "Jacobsen J.R."xsd:string |
| http://purl.uniprot.org/citations/10090529 | http://purl.uniprot.org/core/author | "Kanters J.K."xsd:string |
| http://purl.uniprot.org/citations/10090529 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10090529 | http://purl.uniprot.org/core/name | "Clin Chim Acta"xsd:string |
| http://purl.uniprot.org/citations/10090529 | http://purl.uniprot.org/core/pages | "113-125"xsd:string |
| http://purl.uniprot.org/citations/10090529 | http://purl.uniprot.org/core/title | "A single strand conformation polymorphism/heteroduplex (SSCP/HD) method for detection of mutations in 15 exons of the KVLQT1 gene, associated with long QT syndrome."xsd:string |
| http://purl.uniprot.org/citations/10090529 | http://purl.uniprot.org/core/volume | "280"xsd:string |
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