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. 1991 Aug 1;88(15):6481-5.
doi: 10.1073/pnas.88.15.6481.

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

C H Sung  1 , C M Davenport, J C Hennessey, I H Maumenee, S G Jacobson, J R Heckenlively, R Nowakowski, G Fishman, P Gouras, J Nathans
Affiliations

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

C H Sung et al. Proc Natl Acad Sci U S A. .

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.

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References

    1. Arch Ophthalmol. 1991 Jan;109(1):92-101 - PubMed
    1. Arch Ophthalmol. 1981 Mar;99(3):468-72 - PubMed
    1. Am J Hum Genet. 1991 Jan;48(1):26-30 - PubMed
    1. N Engl J Med. 1990 Nov 8;323(19):1302-7 - PubMed
    1. Proc Natl Acad Sci U S A. 1989 Jan;86(1):232-6 - PubMed

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