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Recessive Arrhythmogenic Right Ventricular Dysplasia Due to Novel Cryptic Splice Mutation in PKP2
Arrhythmogenic right ventricular dysplasia (ARVD) is a genetic disorder resulting in fibrofatty replacement of right ventricular myocytes and consequent ventricular arrhythmias. Heterozygous mutations in PKP2 encoding plakophilin-2 have previously been reported to cause dominant ARVD with reduced pe...
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| Main Authors: | , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2006
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2799897/ https://ncbi.nlm.nih.gov/pubmed/17041889 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.9461 |
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