Human Molecular Genetics, Vol 4, 1739-1743, Copyright © 1995 by Oxford University Press
TP Dryja and T Li
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.
REVIEWS
Molecular genetics of retinitis pigmentosa
Ocular Molecular Genetics Laboratory, Harvard Medical School, Massachusetts Eye & Ear Infirmary, Boston 02114, USA.
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||||
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||||
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||||
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||||
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||||
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||||
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||||
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||||
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||||
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||||
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||||
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||||
![]() |
J. R W Yates Recent Advances: Medical genetics BMJ, April 20, 1996; 312(7037): 1021 - 1025. [Abstract] [Full Text] |
||||
![]() |
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