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- 2016
A large deletion in RPGR causes XLPRA in Weimaraner dogsDOI: 10.1186/s40575-016-0037-x Keywords: Progressive retinal atrophy, Exome sequencing, RPGR (retinitis pigmentosa GTPase regulator) gene, Weimaraner Abstract: 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
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