Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl ‐tRNA synthetase and prolyl‐tRNA synthetase, in patients with Alpers syndrome

This report links for the first time mutations in these genes to human disease in general and to Alpers syndrome in particular.

Source: Molecular Genetics & Genomic Medicine - January 8, 2015 Category: Genetics & Stem Cells Authors: Kalliopi Sofou, Gittan Kollberg, Maria Holmstr öm, Marcela Dávila, Niklas Darin, Claes M. Gustafsson, Elisabeth Holme, Anders Oldfors, Már Tulinius, Jorge Asin‐Cayuela Tags: Original Article Source Type: research