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Purushotham, G. and Madhumohan, K. and Anwaruddin, M. and Nagarajaram, H.A. and Hariram, V. and Narasimhan, C. and Bashyam, M.D. (2010) The MYH7 p.R787H mutation causes hypertrophic cardiomyopathy in two unrelated families. Experimental and clinical cardiology, 15 (1). e1-4. ISSN 1918-1515

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Abstract

Familial hypertrophic cardiomyopathy (FHC) is a Mendelian disorder usually caused by mutations in any one of more than 12 genes, most of which encode sarcomere proteins. The disease exhibits extensive genetic heterogeneity, and it is important to identify mutations that result in adverse symptoms and/or lethality in affected individuals. An analysis of disease-causing mutations has been initiated in the Indian population to determine prevalent mutations.

Item Type: Article
Additional Information: [Open Access from PubMed Central]
Depositing User: Dr P Divakar
Date Deposited: 28 Aug 2015 06:15
Last Modified: 28 Aug 2015 06:17
URI: http://cdfd.sciencecentral.in/id/eprint/409

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