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Two pedigrees with arrhythmogenic right ventricular cardiomyopathy linked with R49H and F531C mutation in DSG2
Arrhythmogenic right ventricular cardiomyopathy (ARVC) presents as the progressive fibrofatty replacement of the cardiomyocytes particularly in the right ventricular wall. Here, we report two cases with ARVC. In family A, the proband carries a Desmoglein2 (DSG2) gene complex heterozygous mutation NM...
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| Yayımlandı: | Hum Genome Var |
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| Asıl Yazarlar: | , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Nature Publishing Group UK
2019
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6804664/ https://ncbi.nlm.nih.gov/pubmed/31645976 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0069-3 |
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