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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.
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Specifiche
| Razza | |
|---|---|
| Organo | |
| Gene | |
| Campione | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Tipo di Ereditarietà | Autosomal Recessive |
| Cromosoma | 3 |
| Tipo di Ereditarietà | rcd1a; rcd1a-PRA |
| Anno di pubblicazione |
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 specific variant of the disorder, known as Rod-Cone Dysplasia 1a (rcd1a or rcd1a-PRA), is caused by a recessive mutation to the gene PDE6B. It is found in the Sloughi.
Caratteristiche cliniche
rcd1a-PRA is characterised by poor dark vision, visual field defects which can progress to blindness over a period of time.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 11124530
Omia ID: 1669