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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 Arbeidsdager
Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Generell informasjon
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.
Kliniske egenskaper
Kliniske tegn er vanligvis til stede i løpet av de første 10 ukene som dårlig syn og nattblindhet.
Tilleggsinformasjon
Referanser
Pubmed ID: 20887780
Omia ID: 1297