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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Bibliografiske detaljer
Udgivet i: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.
Format: Artigo
Sprog:Inglês
Udgivet: 2014
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Article
Online adgang: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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