Articles with "rpe65 gene" as a keyword



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Mutation in the RPE65 gene causing hereditary retinal dystrophy in the Briard dogs: application of a new detection method

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Published in 2018 at "Czech Journal of Animal Science"

DOI: 10.17221/372-cjas

Abstract: Inherited eye diseases are widespread in most of the pure dog breeds and they show a severe impact on canine health, welfare and working ability. Congenital stationary night blindness (CSNB) was originally described in Briards.… read more here.

Keywords: detection; briard; method; rpe65 gene ... See more keywords
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Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy

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Published in 2022 at "Turkish Journal of Ophthalmology"

DOI: 10.4274/tjo.galenos.2021.74944

Abstract: Objectives: Hereditary retinal dystrophies are a rare group of diseases which are heterogeneous in genotype and phenotype and result in total blindness. One of the genetic defects that cause hereditary retinal dystrophy is mutation of… read more here.

Keywords: retinal dystrophy; rpe65 gene; mutation; hereditary retinal ... See more keywords