Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.

@article{Helms2014SarcomereME,
  title={Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.},
  author={Adam Helms and Frank M Davis and David T. Coleman and Sarah N Bartolone and Amelia A Glazier and Francis D. Pagani and Jaime M Yob and Sakthivel Sadayappan and Ellen Pedersen and Robert L. Lyons and Margaret V. Westfall and Richard N. Jones and Mark W. Russell and Sharlene M. Day},
  journal={Circulation. Cardiovascular genetics},
  year={2014},
  volume={7 4},
  pages={434-43}
}
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 protein levels were analyzed in septal myectomy and transplant specimens from 46… CONTINUE READING
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