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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
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| 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 specific variant of the disorder, known as X-Linked PRA 1 (XLPRA1 or XL-PRA), is caused by an X-linked semi-dominant mutation to the gene RPGR.
Caratteristiche cliniche
X-linked retinal degeneration is characterised by initial degeneration of rod photoreceptors, followed by loss of cones and progressive atrophy of the inner retina. Carrier females display a phenotype consistent with random X-chromosome inactivation.
Informazioni aggiuntive
La variazione del background genetico può alterare l'espressione dell'allele della malattia negli animali colpiti, rappresentando così la variazione nell'espressione fenotipica della malattia.
Riferimenti
Pubmed ID: 11978759
Omia ID: 831
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