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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Circ Cardiovasc Genet
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2014
Gaiak:
Article
Sarrera elektronikoa: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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