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Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans.
Progressive rod-cone degeneration (prcd) is a late-onset, autosomal recessive photoreceptor degeneration of dogs and a homolog for some forms of human retinitis pigmentosa (RP). Previously, theExpand
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COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia
Oculoskeletal dysplasia segregates as an autosomal recessive trait in the Labrador retriever and Samoyed canine breeds, in which the causative loci have been termed drd1 and drd2, respectively.Expand
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Exonic SINE insertion in STK38L causes canine early retinal degeneration (erd).
Fine mapping followed by candidate gene analysis of erd - a canine hereditary retinal degeneration characterized by aberrant photoreceptor development - established that the disease cosegregates withExpand
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Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3
Rod-cone dysplasia type 2 (rcd2) is an autosomal recessive disorder that segregates in collie dogs. Linkage disequilibrium and meiotic linkage mapping were combined to take advantage of populationExpand
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Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia
BackgroundAchromatopsia is an autosomal recessive disease characterized by the loss of cone photoreceptor function that results in day-blindness, total colorblindness, and decreased central visualExpand
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A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs
Purpose To identify the causative mutation of canine progressive retinal atrophy (PRA) segregating as an adult onset autosomal recessive disorder in the Basenji breed of dog. Methods Basenji dogsExpand
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Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod-cone degeneration interval and identifies ancestral disease-transmitting chromosome.
Canine progressive rod-cone degeneration (prcd) is a retinal disease previously mapped to a broad, gene-rich centromeric region of canine chromosome 9. As allelic disorders are present in multipleExpand
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IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds.
PURPOSE To identify the causative mutations in two early-onset canine retinal degenerations, crd1 and crd2, segregating in the American Staffordshire terrier and the Pit Bull Terrier breeds,Expand
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Structural organization and expression pattern of the canine RPGRIP1 isoforms in retinal tissue.
PURPOSE To examine the structure and expression of RPGRIP1 in dog retina. METHODS Determination of the structural analysis and expression pattern of canine RPGRIP1 (cRPGRIP1) was based on cDNAExpand
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An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9
Purpose To identify the causative mutation in a canine cone-rod dystrophy (crd3) that segregates as an adult onset disorder in the Glen of Imaal Terrier breed of dog. Methods Glen of Imaal TerriersExpand
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