| http://purl.uniprot.org/citations/25010007 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25010007 | http://www.w3.org/2000/01/rdf-schema#comment | "SCN5A mutations have been reported to underlie a variety of inherited arrhythmias, while the complex overlapping phenotype, especially with congenital heart disease (CHD), is rarely reported. The 48-year-old proband underwent a recent syncope during rest. A CHD (tetralogy of Fallot) and conduction disease was revealed by echocardiogram and ultrasonic cardiogram examination. We combined whole-exome sequencing (WES) and bioinformatics strategies to identify the pathogenic gene for this autosomal-dominant cardiac conduction disease (CCD) in a multi-generation pedigree. We examined four members of this family, including three affected and one unaffected. A novel nonsense mutation (Y1495X) in SCN5A was identified in the affected family members. This mutation is predicted to generate a truncated SCN5A protein, which could result in the loss of sodium current, a defined mechanism of SCN5A related arrhythmias. Our study provides evidence that WES is a highly effective approach for genetic analyses of rare clinical phenotypes. Our study also offers accurate genetic testing information for those yet clinically negative relatives."xsd:string |
| http://purl.uniprot.org/citations/25010007 | http://purl.org/dc/terms/identifier | "doi:10.1038/srep05616"xsd:string |
| http://purl.uniprot.org/citations/25010007 | http://purl.uniprot.org/core/author | "Deng Y."xsd:string |
| http://purl.uniprot.org/citations/25010007 | http://purl.uniprot.org/core/author | "Wang J."xsd:string |
| http://purl.uniprot.org/citations/25010007 | http://purl.uniprot.org/core/author | "Xie L."xsd:string |
| http://purl.uniprot.org/citations/25010007 | http://purl.uniprot.org/core/author | "Yang Y.F."xsd:string |
| http://purl.uniprot.org/citations/25010007 | http://purl.uniprot.org/core/author | "Chen J.L."xsd:string |
| http://purl.uniprot.org/citations/25010007 | http://purl.uniprot.org/core/author | "Tan Z.P."xsd:string |
| http://purl.uniprot.org/citations/25010007 | http://purl.uniprot.org/core/author | "Zhang W.Z."xsd:string |
| http://purl.uniprot.org/citations/25010007 | http://purl.uniprot.org/core/author | "Yang J.F."xsd:string |
| http://purl.uniprot.org/citations/25010007 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/25010007 | http://purl.uniprot.org/core/name | "Sci Rep"xsd:string |
| http://purl.uniprot.org/citations/25010007 | http://purl.uniprot.org/core/pages | "5616"xsd:string |
| http://purl.uniprot.org/citations/25010007 | http://purl.uniprot.org/core/title | "Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death."xsd:string |
| http://purl.uniprot.org/citations/25010007 | http://purl.uniprot.org/core/volume | "4"xsd:string |
| http://purl.uniprot.org/citations/25010007 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/25010007 |
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| http://purl.uniprot.org/uniprot/#_A0A7R6M6R3-mappedCitation-25010007 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25010007 |