Analysis of a deletion in the nephronophthisis 4 gene in different dog breeds
| Autor: | Michaela Přibáňová, Věra Dvořáková, Antonín Stratil, Daniela Schröffelová, Anna Palanova |
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| Rok vydání: | 2013 |
| Předmět: |
Genetics
Mutation General Veterinary Blindness Degenerative Disorder Dachshund Dystrophy Kidney Diseases Cystic Biology medicine.disease medicine.disease_cause eye diseases Dogs Gene Expression Regulation Nephronophthisis medicine Animals Genetic Predisposition to Disease Dog Diseases sense organs Gene Gene Deletion Retinitis Pigmentosa |
| Zdroj: | Veterinary Ophthalmology. 17:76-78 |
| ISSN: | 1463-5216 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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