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Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa
To delineate the genetic determinants associated with retinitis pigmentosa (RP), a hereditary retinal disorder, we recruited four large families manifesting cardinal symptoms of RP. We localized these families to regions on the human genome harboring the α and β subunits of phosphodiesterase 6 and i...
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| 出版年: | Hum Genome Var |
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| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5112436/ https://ncbi.nlm.nih.gov/pubmed/27917291 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2016.36 |
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