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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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Detalhes bibliográficos
Publicado no:Br J Ophthalmol
Principais autores: Moore, A T, Fitzke, F, Jay, M, Arden, G B, Inglehearn, C F, Keen, T J, Bhattacharya, S S, Bird, A C
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 1993
Assuntos:
Acesso em linha: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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