| Autor: |
Bongani M, Mayosi, Maryam, Fish, Gasnat, Shaboodien, Elisa, Mastantuono, Sarah, Kraus, Thomas, Wieland, Maria-Christina, Kotta, Ashley, Chin, Nakita, Laing, Ntobeko B A, Ntusi, Michael, Chong, Christopher, Horsfall, Simon N, Pimstone, Davide, Gentilini, Gianfranco, Parati, Tim-Matthias, Strom, Thomas, Meitinger, Guillaume, Pare, Peter J, Schwartz, Lia, Crotti |
| Rok vydání: |
2016 |
| Předmět: |
|
| Zdroj: |
Circulation. Cardiovascular genetics. 10(2) |
| ISSN: |
1942-3268 |
| Popis: |
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically heterogeneous condition caused by mutations in genes encoding desmosomal proteins in up to 60% of cases. The 40% of genotype-negative cases point to the need of identifying novel genetic substrates by studying genotype-negative ARVC families.Whole exome sequencing was performed on 2 cousins with ARVC. Validation of 13 heterozygous variants that survived internal quality and frequency filters was performed by Sanger sequencing. These variants were also genotyped in all family members to establish genotype-phenotype cosegregation. High-resolution melting analysis followed by Sanger sequencing was used to screen for mutations in cadherin 2 (These data implicate |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
|
