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Showing 1 to 3 of 3 for “"cardiovascular genetics"”.

  1. Validation of the PARVA c.392A>T variant in a South African family with severe Arrhythmogenic Right Ventricular Cardiomyopathy

    … and restrictive cardiomyopathy (RCM) in the Cardiovascular Genetics Laboratory. No definitive evidence of pathogenic PARVA variants was found any of the cardiomyopathy probands screened. We subsequently performed whole exome sequencing on this family to validate the UK findings ( Ion Torrent …

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  2. The use of a genetic strategy to study the role of modulation of oxidative stress by uncoupling proteins 2 and 3 in the pathogenesis of Type 2 Diabetes

    Mitochondrial dysfunction has been implicated in the early pathogenesis of Type 2 Diabetes. The uncoupling proteins 2 and 3 are mitochondrial proteins found in man that have been implicated in protecting mammals from the effects of over-nutrition. Examination of the effect of genetic variation in …

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  3. Cardiovascular Risk Genes in Prevention and Treatment Response

    … (SNPs) that associate with cardiovascular disease (CVD) could be used in prevention and treatment of CVD. SUBJECTS: Subjects from the population-based Malmö-Diet-and-Cancer-(MDC)-Study (n=30447) and hypertensives from the Nordic-Diltiazem-(NORDIL)-Study (n=10881). METHODS AND …

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