Targeted next-generation sequencing identifies a homozygous nonsense mutation in <it>ABHD12</it>, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome ty...

by Eisenberger Tobias, Slim Rima, Mansour Ahmad, Nauck Markus, Nürnberg Gudrun, Nürnberg Peter, Decker Christian, Dafinger Claudia, Ebermann Inga, Bergmann Carsten, Bolz Hanno
Published 2012-09-01