Sarcomere Mutation-Specific Expression Patterns in Human Hypertrophic Cardiomyopathy

BACKGROUND: Heterozygous mutations in sarcomere genes in hypertrophic cardiomyopathy (HCM) are proposed to exert their effect through gain-of-function for missense mutations or loss-of-function for truncating mutations. However, allelic expression from individual mutations has not been sufficiently...

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Detalhes bibliográficos
Publicado no:Circ Cardiovasc Genet
Main Authors: Helms, Adam S., Davis, Frank, Coleman, David, Bartolone, Sarah, Glazier, Amelia A., Pagani, Francis, Yob, Jaime M., Sadayappan, Sakthivel, Pedersen, Ellen, Lyons, Robert, Westfall, Margaret V., Jones, Richard, Russell, Mark W., Day, Sharlene M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4254656/
https://ncbi.nlm.nih.gov/pubmed/25031304
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.113.000448
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