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NMNAT1 variants cause cone and cone-rod dystrophy
Cone and cone-rod dystrophies (CD and CRD, respectively) are degenerative retinal diseases that predominantly affect the cone photoreceptors. The underlying disease gene is not known in approximately 75% of autosomal recessive cases. Variants in NMNAT1 cause a severe, early-onset retinal dystrophy c...
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| 出版年: | Eur J Hum Genet |
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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 UK
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5839026/ https://ncbi.nlm.nih.gov/pubmed/29184169 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-017-0029-7 |
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