THE R21C MUTATION IN TROPONIN I HAS A FOUNDER EFFECT IN SOUTH LEBANON AND CAUSES MALIGNANT HYPERTROPHIC CARDIOMYOPATHY
| Autor: | Christine E. Seidman, Georges Nemer, Barbara McDonough, Mariam T. Arabi, Akl C. Fahed, Steven R. DePalma, Antoine B. Abchee, Fadi F. Bitar, Jonathan G. Seidman, Samir Arnaout, Manal Batrawi, James S. Ware |
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| Rok vydání: | 2015 |
| Předmět: |
Genetics
medicine.medical_specialty business.industry Hypertrophic cardiomyopathy medicine.disease Phenotype Internal medicine Troponin I Mutation (genetic algorithm) cardiovascular system Cardiology Medicine cardiovascular diseases Cardiology and Cardiovascular Medicine business Gene Founder effect |
| Zdroj: | Journal of the American College of Cardiology. 65:A958 |
| ISSN: | 0735-1097 |
| Popis: | Although gene testing is widely available for Hypertrophic Cardiomyopathy (HCM), determining the clinical implications of a mutation is limited by an understanding of its phenotype. Inbred populations with founder mutations provide an opportunity to study genotype-phenotype correlations. We |
| Databáze: | OpenAIRE |
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