Founder Mutation in N Terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy

Cardiac troponin I (TNNI3) gene mutations account for 3% of hypertrophic cardiomyopathy and carriers have a heterogeneous phenotype, with increased risk of sudden cardiac death (SCD). Only one mutation (p.Arg21Cys) has been reported in the N terminus of the protein. In model organisms, it impairs PK...

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Detalles Bibliográficos
Publicado en:Circ Genom Precis Med
Main Authors: Fahed, Akl C., Nemer, Georges, Bitar, Fadi F., Arnaout, Samir, Abchee, Antoine B., Batrawi, Manal, Khalil, Athar, Abou Hassan, Ossama K., DePalma, Steven R., McDonough, Barbara, Arabi, Mariam T., Ware, James S., Seidman, Jonathan G., Seidman, Christine E.
Formato: Artigo
Idioma:Inglês
Publicado: Lippincott Williams & Wilkins 2020
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Original Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7676616/
https://ncbi.nlm.nih.gov/pubmed/32885985
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGEN.120.002991
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