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The K153Del PRPH2 mutation differentially impacts photoreceptor structure and function
Peripherin 2 (Prph2) is a photoreceptor tetraspanin, and deletion of codon 153 (K153Δ) leads to retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in the same family. To study this variability, we generated a K153Δ-Prph2 knockin mouse. K153Δ-Prph2 cannot form the complexes required f...
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| 出版年: | Hum Mol Genet |
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| 主要な著者: | , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Oxford University Press
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5179945/ https://ncbi.nlm.nih.gov/pubmed/27365499 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw193 |
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