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Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.

A clinical, psychophysical, and electrophysiologic study was undertaken of two autosomal dominant retinitis pigmentosa pedigrees with a genetic mutation assigned to chromosome 19q by linkage analysis. Members with the abnormal haplotype were either symptomatic with adolescent onset nyctalopia, restr...

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Detalhes bibliográficos
Publicado no:Br J Ophthalmol
Main Authors: Evans, K, al-Maghtheh, M, Fitzke, F W, Moore, A T, Jay, M, Inglehearn, C F, Arden, G B, Bird, A C
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 1995
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC505271/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7488604/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/bjo.79.9.841
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