Article
[Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes].
Journal francais d'ophtalmologie - 1 Dec 2000
Hamel C P, Griffoin J M, Bazalgette C, Lasquellec L, Duval P A, Bareil C, Beaufrère L, Bonnet S, Eliaou C, Marlhens F, Schmitt-Bernard C F, Tuffery S, Claustres M, Arnaud B
Abstract excerpt
PURPOSE: To evaluate the occurrence and inheritance of various types of pigmentary retinopathy in patients followed at the outpatient clinic in the university hospital, Montpellier, France. To characterize genes and mutations causing these conditions. METHODS: Ophthalmic examination and various visual tests were performed. Mutations were sought from genomic DNA by PCR amplification of exons associated with...
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