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

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About: Mutation in the RPE65 gene causing hereditary retinal dystrophy in the Briard dogs: application of a new detection method Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Inherited eye diseases are widespread in most of dog breeds and show impact on canine health, welfare and working ability. Congenital stationary night blindness CSNB was originally described in Briards. CSNB is slow progressive retinal degeneration with very early onset of clinical symptoms and is inherited in an autosomal recessive manner. The causative mutation for CSNB was identified on exon 5 of the RPE65 gene. This deletion results in a frame shift, and it leads to a premature stop codon and expression of a non-functional protein. The deletion could be detected by electrophoresis method. Inherited eye diseases are widespread in most of dog breeds and show impact on canine health, welfare and working ability. Congenital stationary night blindness CSNB was originally described in Briards. CSNB is slow progressive retinal degeneration with very early onset of clinical symptoms and is inherited in an autosomal recessive manner. The causative mutation for CSNB was identified on exon 5 of the RPE65 gene. This deletion results in a frame shift, and it leads to a premature stop codon and expression of a non-functional protein. The deletion could be detected by electrophoresis method. (en) Inherited eye diseases are widespread in most of dog breeds and show impact on canine health, welfare and working ability. Congenital stationary night blindness CSNB was originally described in Briards. CSNB is slow progressive retinal degeneration with very early onset of clinical symptoms and is inherited in an autosomal recessive manner. The causative mutation for CSNB was identified on exon 5 of the RPE65 gene. This deletion results in a frame shift, and it leads to a premature stop codon and expression of a non-functional protein. The deletion could be detected by electrophoresis method. (cs)
Title	Mutation in the RPE65 gene causing hereditary retinal dystrophy in the Briard dogs: application of a new detection method Mutace v genu RPE65 způsobuje dědičnou dystrofii sítnice u Briardů použití nové detekční metody (cs) Mutation in the RPE65 gene causing hereditary retinal dystrophy in the Briard dogs: application of a new detection method (en)
skos:prefLabel	Mutation in the RPE65 gene causing hereditary retinal dystrophy in the Briard dogs: application of a new detection method Mutace v genu RPE65 způsobuje dědičnou dystrofii sítnice u Briardů použití nové detekční metody (cs) Mutation in the RPE65 gene causing hereditary retinal dystrophy in the Briard dogs: application of a new detection method (en)
skos:notation	RIV/60460709:41210/08:26236!RIV09-GA0-41210___
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(1QS500450578), P(GD523/03/H076), Z(AV0Z50450515), Z(MSM6046070901)
http://linked.open...iv/cisloPeriodika	4
http://linked.open...vai/riv/dodaniDat	2009
http://linked.open...aciTvurceVysledku	Jílek, František Bechyňová, Renata
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Česká zemědělská univerzita v Praze / Fakulta agrobiologie, potravinových a přírodních zdrojů
http://linked.open...dnocenehoVysledku	381270
http://linked.open...ai/riv/idVysledku	RIV/60460709:41210/08:26236
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	RPE65 gene, CSNB, dog, Briard, electrophoresis (en)
http://linked.open.../riv/klicoveSlovo	electrophoresis dog Briard CSNB RPE65 gene
http://linked.open...odStatuVydavatele	CZ - Česká republika
http://linked.open...ontrolniKodProRIV	[0A6FB45E7954]
http://linked.open...i/riv/nazevZdroje	Czech Journal of Animal Science
http://linked.open...in/vavai/riv/obor	GG
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	5 (xsd:int)
http://linked.open...vavai/riv/projekt	Population and molecular-genetic studies of progressive retinal atrophies (PRA) in dog breeds bred in Czech Republic - methods of their detection Enhancing of Methodological Level and Theoretical Education of Students of the Ph. D. Program 4103V - Animal Husbandry - a Perspective Field General Animal Husb
http://linked.open...UplatneniVysledku	2008
http://linked.open...v/svazekPeriodika	53
http://linked.open...iv/tvurceVysledku	Horák, Pavel Jílek, František Dostál, Jaromír Stratil, Antonín Bechyňová, Renata
http://linked.open...n/vavai/riv/zamer	Genetic, functional and developmental potential of animal cells, tissues and organisms: their use in medicine, ecology and agriculture Setrvalé zemědělství, kvalita zemědělské produkce, krajinné a přírodní zdroje.
issn	1212-1819
number of pages	4 (xsd:int)
http://localhost/t...ganizacniJednotka	41210

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