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Hypomorphic mutations identified in candidate Leber congenital amaurosis disease gene CLUAP1
PURPOSE: Leber congenital amaurosis (LCA) is an early-onset form of retinal degeneration and six of the 22 known LCA disease genes encode photoreceptor ciliary proteins. Despite the identification of 22 LCA disease genes, the genetic basis of approximately 30% of LCA patients remains unknown. We sou...
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| 出版年: | Genet Med |
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| 主要な著者: | , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4965339/ https://ncbi.nlm.nih.gov/pubmed/26820066 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2015.205 |
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