Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de no...
Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy : cardiovascular topic
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Clinics Cardive Publishing
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Language
English
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Clinics Cardive Publishing
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Introduction : The minimum criterion for the diagnosis of hypertrophic cardiomyopathy (HCM) is thickening of the left ventricular wall, typically in an asymmetrical or focal fashion, and it requires no functional deficit. Using this criterion, we identified a family with four affected individuals and a single unrelated individual essentially with r...
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Full title
Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy : cardiovascular topic
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TN_cdi_sabinet_saepub_10520_EJC169093
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_sabinet_saepub_10520_EJC169093
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ISSN
1995-1892
E-ISSN
1680-0745
