Article
Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa.
Investigative ophthalmology & visual science - 27 Sept 2011
Ali Manir, Hocking Paul M, McKibbin Martin, Finnegan Sorcha, Shires Mike, Poulter James A, Prescott Katrina, Booth Adam, Raashid Yasmin, Jafri Hussain, Ruddle Jonathan B, Mackey David A, Jacobson Samuel G, Toomes Carmel, Lester Douglas H, Burt David W, Curry William J, Inglehearn Chris F
Abstract excerpt
PURPOSE: To identify the defective gene in the sex-linked, recessively inherited retinal dysplasia and degeneration (rdd) chicken and to search for the human equivalent disease. METHODS: Microsatellites from chicken chromosome Z were genotyped in 77 progeny of a carrier male (rdd/+) and an affected female (rdd/W), and candidate genes were sequenced. Retinal cross-sections from rdd and wild-type birds were...
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