Article
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.
Circulation. Cardiovascular genetics - 1 Aug 2014
Helms Adam S, Davis Frank M, Coleman David, Bartolone Sarah N, 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
Abstract excerpt
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 characterized to support this exclusive distinction in human HCM. METHODS AND RESULTS: Sarcomere transcript and...
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