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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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| Main Authors: | , , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
1994
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC504786/ https://ncbi.nlm.nih.gov/pubmed/8025068 |
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