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A novel recessive GUCY2D mutation causing cone–rod dystrophy and not Leber's congenital amaurosis
Cone–rod dystrophies are inherited retinal dystrophies that are characterized by progressive degeneration of cones and rods, causing an early decrease in central visual acuity and colour vision defects, followed by loss of peripheral vision in adolescence or early adult life. Both genetic and clinic...
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| Главные авторы: | , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Nature Publishing Group
2010
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2987461/ https://ncbi.nlm.nih.gov/pubmed/20517349 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.81 |
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