Analysis of a deletion in the nephronophthisis 4 gene in different dog breeds |
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Authors: | Anna Palánová Daniela Schröffelová Michaela Přibáňová Věra Dvořáková Antonín Stratil |
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Institution: | 1. Institute of Animal Physiology and Genetics, v.v.i., Academy of Sciences of the Czech Republic, , 277 21 Liběchov, Czech Republic;2. Laboratory of Immunogenetics, Czech Moravian Breeders Corporation, , 252 09 Hradi?tko pod Medníkem, Czech Republic |
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Abstract: | 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 standard‐, but also in miniature wire‐haired Dachshunds, but not in other varieties of Dachshunds or in other breeds. |
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Keywords: | blindness cone Dachshund dystrophy nephronophthisis rod |
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