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Progressive Retinal Atrophy (PRA) is a large group of genetic diseases in which the retina gradually degenerates over time, causing a progressive loss of vision.
10 días laborables
Especificaciones
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specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
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Chromosome | |
Also known as | |
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Información específica de la prueba
Progressive Retinal Atrophy (PRA) is a large group of genetic diseases in which the retina gradually degenerates over time, causing a progressive loss of vision. This early-onset variant of the disease, known as Early Retinal Degeneration (erd-PRA), is found in the Norwegian Elkhound Grey and Black. It is caused by a recessive mutation to the gene STK38L.
Características clínicas
Los signos clínicos como mala visión y ceguera nocturna, generalmente están presentes dentro de las primeras 10 semanas de vida.
Información adicional
Referencias
Pubmed ID: 20887780
Omia ID: 1297