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Atypical retinal degeneration 3 in mice is caused by defective PDE6B pre-mRNA splicing

Mutations in the key rod phototransduction enzyme phosphodiesterase 6 (PDE6) are known to cause recessive retinitis pigmentosa in humans. Mouse models of mutant PDE6 represent a common approach to understanding the mechanisms of visual disorders related to PDE6 defects. Mutation N605S in the PDE6B s...

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書誌詳細
主要な著者: Muradov, Hakim, Boyd, Kimberly K., Kerov, Vasily, Artemyev, Nikolai O.
フォーマット: Artigo
言語:Inglês
出版事項: 2012
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3285400/
https://ncbi.nlm.nih.gov/pubmed/22326271
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.visres.2012.01.017
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