EisenbergerT EisenbergerT Slim R Slim R MansourA MansourA Nauck M Nauck M Nürnberg G Nürnberg G Nürnberg R Nürnberg R 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 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 Orphanet J Rare Dis Orphanet J Rare Dis 2012 2012 7 7 59 59 10.1186/1750-1172-7-59 10.1186/1750-1172-7-59. The gene discussed is ABHD12; the disease is Usher syndrome type 3.