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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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| 主要な著者: | , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group
2010
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| 主題: | |
| オンライン・アクセス: | 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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