| http://purl.uniprot.org/citations/17033975 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17033975 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17033975 | http://www.w3.org/2000/01/rdf-schema#comment | "Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited myocardial disorder associated with arrhythmias, heart failure, and sudden death. To date, mutations in four genes encoding major desmosomal proteins (plakoglobin, desmoplakin, plakophilin-2, and desmoglein-2) have been implicated in the pathogenesis of ARVD/C. We screened 77 probands with ARVD/C for mutations in desmocollin-2 (DSC2), a gene coding for a desmosomal cadherin. Two heterozygous mutations--a deletion and an insertion--were identified in four probands. Both mutations result in frameshifts and premature truncation of the desmocollin-2 protein. For the first time, we have identified mutations in desmocollin-2 in patients with ARVD/C, a finding that is consistent with the hypothesis that ARVD/C is a disease of the desmosome."xsd:string |
| http://purl.uniprot.org/citations/17033975 | http://purl.org/dc/terms/identifier | "doi:10.1086/509122"xsd:string |
| http://purl.uniprot.org/citations/17033975 | http://purl.org/dc/terms/identifier | "doi:10.1086/509122"xsd:string |
| http://purl.uniprot.org/citations/17033975 | http://purl.uniprot.org/core/author | "Ward D."xsd:string |
| http://purl.uniprot.org/citations/17033975 | http://purl.uniprot.org/core/author | "Ward D."xsd:string |
| http://purl.uniprot.org/citations/17033975 | http://purl.uniprot.org/core/author | "McKenna W.J."xsd:string |
| http://purl.uniprot.org/citations/17033975 | http://purl.uniprot.org/core/author | "McKenna W.J."xsd:string |
| http://purl.uniprot.org/citations/17033975 | http://purl.uniprot.org/core/author | "Asimaki A."xsd:string |
| http://purl.uniprot.org/citations/17033975 | http://purl.uniprot.org/core/author | "Asimaki A."xsd:string |
| http://purl.uniprot.org/citations/17033975 | http://purl.uniprot.org/core/author | "Syrris P."xsd:string |
| http://purl.uniprot.org/citations/17033975 | http://purl.uniprot.org/core/author | "Syrris P."xsd:string |
| http://purl.uniprot.org/citations/17033975 | http://purl.uniprot.org/core/author | "Evans A."xsd:string |
| http://purl.uniprot.org/citations/17033975 | http://purl.uniprot.org/core/author | "Evans A."xsd:string |
| http://purl.uniprot.org/citations/17033975 | http://purl.uniprot.org/core/author | "Gandjbakhch E."xsd:string |
| http://purl.uniprot.org/citations/17033975 | http://purl.uniprot.org/core/author | "Gandjbakhch E."xsd:string |
| http://purl.uniprot.org/citations/17033975 | http://purl.uniprot.org/core/author | "Sen-Chowdhry S."xsd:string |
| http://purl.uniprot.org/citations/17033975 | http://purl.uniprot.org/core/author | "Sen-Chowdhry S."xsd:string |
| http://purl.uniprot.org/citations/17033975 | http://purl.uniprot.org/core/date | "2006"xsd:gYear |
| http://purl.uniprot.org/citations/17033975 | http://purl.uniprot.org/core/date | "2006"xsd:gYear |
| http://purl.uniprot.org/citations/17033975 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/17033975 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/17033975 | http://purl.uniprot.org/core/pages | "978-984"xsd:string |
| http://purl.uniprot.org/citations/17033975 | http://purl.uniprot.org/core/pages | "978-984"xsd:string |