%0 Journal Article
%T A large deletion in RPGR causes XLPRA in Weimaraner dogs
%A Carsten Rosenhagen
%A Denis A. Akkad
%A Gabriele Dekomien
%A Janine Altm¨¹ller
%A J£¿rg T. Epplen
%A Matthias Frank
%A Peter N¨¹rnberg
%A Regina Kropatsch
%J Archive of "Canine Genetics and Epidemiology".
%D 2016
%R 10.1186/s40575-016-0037-x
%X Progressive retinal atrophy (PRA) belongs to a group of inherited retinal disorders associated with gradual vision impairment due to degeneration of retinal photoreceptors in various dog breeds. PRA is highly heterogeneous, with autosomal dominant, recessive or X-linked modes of inheritance. In this study we used exome sequencing to investigate the molecular genetic basis of a new type of PRA, which occurred spontaneously in a litter of German short-hair Weimaraner dogs
%K Progressive retinal atrophy
%K Exome sequencing
%K RPGR (retinitis pigmentosa GTPase regulator) gene
%K Weimaraner
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938961/