Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa

Aim: To describe the clinical characteristics and disease course of a large family with retinitis pigmentosa (RP) from an Arg135Leu change in rhodopsin. Methods: 29 patients in this family were evaluated. Goldmann visual fields were performed on 14 affected individuals, Ganzfeld electroretinography...

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Autors principals: Oh, K T, Oh, D M, Weleber, R G, Stone, E M, Parikh, A, White, J, DeBoer-Shields, K A, Streb, L, Vallar, C
Format: Artigo
Idioma:Inglês
Publicat: Copyright 2004 British Journal of Ophthalmology 2004
Matèries:
Clinical Science - Scientific Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1772449/
https://ncbi.nlm.nih.gov/pubmed/15548806
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.2004.043653
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