Affected gene: RHO
Inheritance: Autosomal Recessive
Mutation: CanFam3.1 20 g.5637394G>C c.11C>G
OMIA link: 001346-9615Appropriate breeds for testing: Mastiff , Bullmastiff
References:
Kijas JW, Cideciyan AV, Aleman TS, Pianta MJ, Pearce-Kelling SE, Miller BJ, Jacobson SG, Aguirre GD, Acland GM. Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa. Proc Natl Acad Sci U S A. 2002 Apr 30; 99(9):6328-33. [PubMed: 11972042]
Kijas JW, Miller BJ, Pearce-Kelling SE, Aguirre GD, Acland GM. Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff dog breeds. J Hered. 2003 Jan-Feb; 94(1):27-30. [PubMed: 12692159]
Progressive Retinal Atrophy (PRA-D), RHO Gene- Mastiff Type
5 tests et + 55$ch.
Délais de traitement
Après la réception de vos échantillons au laboratoire, veuillez prévoir un délai de 10 à 15 jours ouvrables pour l’envoi de vos résultats.