Condition: CARDIOMYOPATHY, DILATED, 2A (disorder)
rs397516354 in
TNNI3 gene and
CARDIOMYOPATHY, DILATED, 2A (disorder)
PMID 15698845 2005 Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences.
PMID 15607392 2004 Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.
PMID 12860912 2003 Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.
PMID 22876777 2012 High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians.
PMID 21511876 2011 Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy.
rs397516359 in
TNNI3;LOC101930593 gene and
CARDIOMYOPATHY, DILATED, 2A (disorder)
PMID 19590045 2009 Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy.
PMID 21846512 2012 Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.