Τετάρτη 19 Σεπτεμβρίου 2018

Genetic mutation of familial dilated cardiomyopathy based on next ‑generation semiconductor sequencing.

Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing. Mol Med Rep. 2018 Sep 05;: Authors: Lin XF, Luo JW, Liu G, Zhu YB, Jin Z, Lin X Abstract Dilated cardiomyopathy (DCM) is a complex myocardial disease of multifactorial etiologies, including enlarged cardiac chambers and contractile dysfunction. It has been suggested that the inheritance of DCM‑associated mutations predominates its onset. Therefore, the present study investigated the pathogenesis of DCM via pedigree analysis and genetic diagnosis by massive whole‑exome screening, and targeted exon capture. To study the familial gene‑phenotype association, the exon and splice sites of 325 hereditary disease‑associated genes in the proband with familial dilated...

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