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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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書誌詳細
主要な著者: Ugur Iseri, Sibel A, Durlu, Yusuf K, Tolun, Aslihan
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2010
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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