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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 variant of the disease, known as Early-Onset Cone-Rod Dystrophy (crd4-PRA), or as cord1, occurs in the Miniature Longhaired Dachshund and the English Springer Spaniel. It is caused by a recessive mutation to the gene RPGRIP1.
Caratteristiche cliniche
Eventuale cecità negli individui colpiti.
Informazioni aggiuntive
La mutazione sull'RPGRIP1 è testata, non su MAP9.
Riferimenti
Pubmed ID: 16806805
Omia ID: 1432
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