An intronic LINE-1 insertion in MERTK is strongly associated with retinopathy in Swedish Vallhund dogs

The domestic dog segregates a significant number of inherited progressive retinal diseases, several of which mirror human retinal diseases and which are collectively termed progressive retinal atrophy (PRA). In 2014, a novel form of PRA was reported in the Swedish Vallhund breed, and the disease was...

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Veröffentlicht in:	PloS one 2017-08, Vol.12 (8), p.e0183021-e0183021
Hauptverfasser:	Everson, Richard, Pettitt, Louise, Forman, Oliver P, Dower-Tylee, Olivia, McLaughlin, Bryan, Ahonen, Saija, Kaukonen, Maria, Komáromy, András M, Lohi, Hannes, Mellersh, Cathryn S, Sansom, Jane, Ricketts, Sally L
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Atrophy Biology and Life Sciences Breeding of animals Chromosome 17 Comparative analysis Confidence intervals Disease Disruption DNA sequencing Dogs Finland Gene expression Gene regulation Gene sequencing Genetic aspects Genetics Genome-Wide Association Study Genomes Genotype Health aspects Insertion Introns Kinases Long Interspersed Nucleotide Elements Medicine and Health Sciences MERTK gene Mutagenesis, Insertional Mutation Neurology Polymorphism, Single Nucleotide Proto-Oncogene Proteins - genetics Receptor Protein-Tyrosine Kinases - genetics Research and Analysis Methods Retina Retinal degeneration Retinal diseases Retinal Diseases - genetics Retinopathy Studies United Kingdom Veterinary medicine
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