Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
Eisenberger Tobias, Mansour Ahmad, Slim Rima, Nauck Markus, Nürnberg Gudrun, Nürnberg Peter, Decker Christian, Dafinger Claudia, Ebermann Inga, Bergmann Carsten, Bolz Hanno