Whole exome sequencing reveals mutations in NARS2 and PARS2 , encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome
Sofou, Kalliopi, Kollberg, Gittan, Holmström, Maria, Dávila, Marcela, Darin, Niklas, Gustafsson, Claes M., Holme, Elisabeth, Oldfors, Anders, Tulinius, Már, Asin-Cayuela, JorgeVolume:
3
Language:
english
Journal:
Molecular Genetics & Genomic Medicine
DOI:
10.1002/mgg3.115
Date:
January, 2015
File:
PDF, 2.27 MB
english, 2015