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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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| 主要な著者: | , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Copyright 2004 British Journal of Ophthalmology
2004
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| 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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