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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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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 37 |
| Mutation | c.2601_2602insC |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | GR_PRA; PRA1 |
Informations générales
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 is found in the Golden Retriever, and is therefore called Golden Retriever PRA (GR-PRA1). It is caused by a recessive mutation to the gene SLC4A3.
Caractéristiques cliniques
Les signes cliniques comprennent la cécité nocturne et la perte de la vision périphérique.
Additional Information
Références
Pubmed ID: 21738669
Year published: 2011
Omia ID: 1572
Omia variant ID: 575