Article
Analysis of a deletion in the nephronophthisis 4 gene in different dog breeds.
Veterinary ophthalmology - 1 Jan 2014
Palánová Anna, Schröffelová Daniela, Přibáňová Michaela, Dvořáková Věra, Stratil Antonín
Abstract excerpt
Cone-rod dystrophy is a progressive inherited retinal degenerative disorder that occurs in humans and dogs. The deletion in the nephronophthisis 4 (NPHP4) gene was established as a causative mutation in standard wire-haired Dachshunds. We analyzed all varieties of Dachshunds from the Czech Republic and five other dog breeds and found that the deletion in the NPHP4 (in heterozygous state) is present not only in...
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