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Impact of Retinal Disease-Associated RPE65 Mutations on Retinoid Isomerization
Pathogenic mutations in the RPE65 gene are associated with a spectrum of congenital blinding diseases in humans. We evaluated changes in the promoter region, coding regions, and exon/intron junctions of the RPE65 gene by direct sequencing of DNA from 36 patients affected with Leber's congenital...
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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: |
2008
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2610467/ https://ncbi.nlm.nih.gov/pubmed/18722466 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/bi800905v |
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