Article
Hypertrophic cardiomyopathy. A study of the troponin-T gene in 127 Spanish families.
Revista espanola de cardiologia - 1 Dec 2009
Gimeno Juan R, Monserrat Lorenzo, Pérez-Sánchez Inmaculada, Marín Francisco, Caballero Luis, Hermida-Prieto Manuel, Castro Alfonso, Valdés Mariano
Abstract excerpt
The information available on the correlation between genotype and phenotype and the prognostic implications of different troponin-T gene mutations is sparse and, at times, contradictory. We studied the TNNT2 gene in 127 patients with hypertrophic cardiomyopathy and identified three mutations in patients from four families (3.1%): the Phe87Leu mutation, which has not been previously reported, the Arg278Cys...
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