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Ocular manifestations in autosomal dominant retinitis pigmentosa with a Lys-296-Glu rhodopsin mutation at the retinal binding site.

A lysine to glutamic acid substitution at codon 296 in the rhodopsin gene has been reported in a family with autosomal dominant retinitis pigmentosa. This mutation is of particular functional interest as this lysine molecule is the binding site of 11-cis-retinal. The clinical features of a family wi...

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Udgivet i:Br J Ophthalmol
Principais autores: Owens, S L, Fitzke, F W, Inglehearn, C F, Jay, M, Keen, T J, Arden, G B, Bhattacharya, S S, Bird, A C
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 1994
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC504786/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8025068/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/bjo.78.5.353
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