Novel rhodopsin mutation (M216R) in a Danish family with autosomal dominant retinitis pigmentosa
- 1 January 1996
- journal article
- research article
- Published by Taylor & Francis in Ophthalmic Genetics
- Vol. 17 (4) , 193-197
- https://doi.org/10.3109/13816819609057893
Abstract
A novel rhodopsin missense mutation (M216R) was found in a Danish patient with autosomal dominant retinitis pigmentosa. Clinical examination of the proband disclosed a phenotype of intermediate severity. In view of the predicted amino acid substitution in the 5th transmembrane domain of rhodopsin, the clinical picture of the proband is in keeping with the data from the literature on patients carrying similar mutations.Keywords
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