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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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書誌詳細
主要な著者: Oh, K T, Oh, D M, Weleber, R G, Stone, E M, Parikh, A, White, J, DeBoer-Shields, K A, Streb, L, Vallar, C
フォーマット: Artigo
言語:Inglês
出版事項: Copyright 2004 British Journal of Ophthalmology 2004
主題:
オンライン・アクセス: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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