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Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study.

Twenty five symptomatic individuals and six asymptomatic obligate gene carriers from four families with autosomal dominant retinitis pigmentosa (adRP) showing apparent incomplete penetrance have been studied. Symptomatic individuals from three families showed early onset of night blindness, non-reco...

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Publicado en:Br J Ophthalmol
Autores principales: Moore, A T, Fitzke, F, Jay, M, Arden, G B, Inglehearn, C F, Keen, T J, Bhattacharya, S S, Bird, A C
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Publishing Group 1993
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Acceso en línea:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC504578/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8025041/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/bjo.77.8.473
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