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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.
Working days 10
Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informazioni generali
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.
Caratteristiche cliniche
I segni clinici si presentano solitamente entro le prime 10 settimane come scarsa visione e cecità notturna.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 20887780
Omia ID: 1297