NDLI: Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

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Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

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Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Gouras, P. Davenport, C. M. Jacobson, S. G. Nowakowski, R. Hennessey, J. C. Heckenlively, J. R. Sung, C. H. Maumenee, I. H. Fishman, G. Nathans, J.
Description	Author Affiliation: Sung CH ( Howard Hughes Medical Institute, Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.);
Abstract	DNA samples from 161 unrelated patients with autosomal dominant retinitis pigmentosa were screened for point mutations in the rhodopsin gene by using the polymerase chain reaction and denaturing gradient gel electrophoresis. Thirty-nine patients were found to carry 1 of 13 different point mutations at 12 amino acid positions. The presence or absence of the mutations correlated with the presence or absence of retinitis pigmentosa in 174 out of 179 individuals tested in 17 families. The mutations were absent from 118 control subjects with normal vision.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	15
Volume Number	88
Language	English
Publisher	National Academy of Sciences
Publisher Date	1991-09-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	DNA Genetics Genes, Dominant Genes Mutation Retinitis Pigmentosa Rhodopsin Metabolism Isolation & Purification Molecular Sequence Data Night Blindness Etiology Nucleic Acid Hybridization Oligonucleotide Probes Pedigree Polymerase Chain Reaction Visual Fields Research Support, Non-U.S. Gov't Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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