Article
Whole-mitochondrial genome sequencing in primary open-angle glaucoma using massively parallel sequencing identifies novel and known pathogenic variants.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2015
Sundaresan Periasamy, Simpson David A, Sambare Chitra, Duffy Seamus, Lechner Judith, Dastane Aditi, Dervan Edward W, Vallabh Neeru, Chelerkar Vidya, Deshpande Madan, O'Brien Colm, McKnight Amy Jayne, Willoughby Colin E
Abstract excerpt
PURPOSE: The aim of this study was to determine whether mutations in mitochondrial DNA play a role in high-pressure primary open-angle glaucoma (OMIM 137760) by analyzing new data from massively parallel sequencing of mitochondrial DNA. METHODS: Glaucoma patients with high-tension primary open-angle glaucoma and ethnically matched and age-matched control subjects without glaucoma were recruited. The entire human...
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