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A mutation in the CEP290 gene is reported in a cat pedigree segregating for autosomal recessive (AR) late-onset photoreceptor degeneration (rdAc).
10 working days
Abyssinian, American Curl, American Shorthair, American Wirehair, Balinese, Bengal, Colorpoint Shorthair, Cornish Rex, Javanese, Munchkin, Ocicat, Oriental Shorthair, Savannah, Siamese, Singapura, Somali, Tonkinese
Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mutations in CEP290 have recently been shown to cause two human diseases, Joubert syndrome, a syndromic retinal degeneration, and Leber's congenital amaurosis, an AR early-onset retinal dystrophy.
Pubmed ID: 17507457
Omia ID: 1244
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