Browsing by Subject "Retinal degeneration"
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The D153del mutation in GNB3 gene causes tissue specific signalling patterns and an abnormal renal morphology in rge chickens (Public Library of Science, 2011-08)Background The GNB3 gene is expressed in cone but not rod photoreceptors of vertebrates, where it acts as the β transducin subunit in the colour visual transduction process. A naturally occurring mutation ‘D153del’ in ...
Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa (Association for Research in Vision and Ophthalmology, 2011-09)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 ...
The novel human p.I587V variant in the ZNF644 gene is unlikely to be the pathogenic cause of dominantly inherited high myopia in a Chinese patient (Association for Research in Vision and Ophthalmology, 2012-09)