Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.

Autor: Shanks, Morag E, Downes, Susan M, Copley, Richard R, Lise, Stefano, Broxholme, John, Hudspith, Karl AZ, Kwasniewska, Alexandra, Davies, Wayne IL, Hankins, Mark W, Packham, Emily R, Clouston, Penny, Seller, Anneke, Wilkie, Andrew OM, Taylor, Jenny C, Ragoussis, Jiannis, Németh, Andrea H

Publikováno v: European Journal of Human Genetics; Mar2013, Vol. 21 Issue 3, p274-280, 7p, 1 Diagram, 3 Charts, 2 Graphs