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Molecular genetics of retinitis pigmentosa

by: T. P. Dryja, T. Li
Human Molecular Genetics, Vol. 4, No. suppl 1. (01 September 1995), pp. 1739-1743  Key: citeulike:12062424

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Abstract

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.


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