Molecular genetics of retinitis pigmentosa.
Hereditary degenerations and dysfunctions of the retina are an extremely heterogeneous group of diseases. This summary deals with recent advances in the molecular genetics of a subset of those disorders, namely, those encompassed under the diagnosis 'retinitis pigmentosa'. Over 20 loci where mutations cause retinitis pigmentosa have been mapped; the review focuses on the seven retinitis pigmentosa loci that have been identified.
Ocular Molecular Genetics Laboratory, Harvard Medical School, Massachusetts Eye & Ear Infirmary, Boston 02114, USA.
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D006801:Humans; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics
D012243:Rhodopsin