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Mutations of presenilin genes in dilated cardiomyopathy and heart failure.
Li D, Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Partain J, Nixon RR, Allen CN, Irwin RP, Jakobs PM, Litt M, Hershberger RE. Li D, et al. Am J Hum Genet. 2006 Dec;79(6):1030-9. doi: 10.1086/509900. Epub 2006 Oct 24. Am J Hum Genet. 2006. PMID: 17186461 Free PMC article.
Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy.
Morales A, Painter T, Li R, Siegfried JD, Li D, Norton N, Hershberger RE. Morales A, et al. Among authors: li d, li r. Circulation. 2010 May 25;121(20):2176-82. doi: 10.1161/CIRCULATIONAHA.109.931220. Epub 2010 May 10. Circulation. 2010. PMID: 20458009 Free PMC article.
Functional characterization of TNNC1 rare variants identified in dilated cardiomyopathy.
Pinto JR, Siegfried JD, Parvatiyar MS, Li D, Norton N, Jones MA, Liang J, Potter JD, Hershberger RE. Pinto JR, et al. Among authors: li d. J Biol Chem. 2011 Sep 30;286(39):34404-12. doi: 10.1074/jbc.M111.267211. Epub 2011 Aug 5. J Biol Chem. 2011. PMID: 21832052 Free PMC article.
Here, we report the clinical, genetic, and functional characterization of four TNNC1 rare variants (Y5H, M103I, D145E, and I148V), all previously reported by us in association with DCM (Hershberger, R. E., Norton, N., Morales, A., Li, D., Siegfried, J. D., an …
Here, we report the clinical, genetic, and functional characterization of four TNNC1 rare variants (Y5H, M103I, D145E, and I148V), all previ …
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