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High prevalence of Arginine to Glutamine Substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians

BACKGROUND: Troponin I (TNNI3) is the inhibitory subunit of the thin filament regulatory complex Troponin, which confers calcium-sensitivity to striated muscle actomyosin ATPase activity. Mutations (2-7%) in this gene had been reported in hypertrophic cardiomyopathy patients (HCM). However, the freq...

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Detalles Bibliográficos
Autores principales: Rani, Deepa Selvi, Nallari, Pratibha, Priyamvada, Singh, Narasimhan, Calambur, Singh, Lalji, Thangaraj, Kumarasamy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3495047/
https://www.ncbi.nlm.nih.gov/pubmed/22876777
http://dx.doi.org/10.1186/1471-2350-13-69