Article
A Novel Amplification-Refractory Mutation System-PCR Strategy to Screen MT-TL1 Pathogenic Variants in Patient Repositories.
Genetic testing and molecular biomarkers - 1 Mar 2020
Bulduk Bengisu Kevser, Kiliç Hasan Basri, Bekircan-Kurt Can Ebru, Haliloğlu Göknur, Erdem Özdamar Sevim, Topaloğlu Haluk, Kocaefe Y Çetin
Abstract excerpt
Aim: Pathogenic variants within mitochondrial tRNA and rRNA genes negatively affect protein synthesis function and cause oxidative phosphorylation defects. The majority of mitochondrial cytopathies are caused by pathogenic point variants within the mitochondrial tRNA gene for leucine (MT-TL1). This study was designed to evaluate a novel amplification-refractory mutation system (ARMS)-PCR based assay to screen...
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