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Frontotemporal dementia non-sense mutation of progranulin rescued by aminoglycosides
Frontotemporal dementia (FTD) is an early onset dementia characterized by progressive atrophy of the frontal and/or temporal lobes. FTD is highly heritable with mutations in progranulin accounting for 5–26% of cases in different populations. Progranulin is involved in endocytosis, secretion and lyso...
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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
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7068117/ https://ncbi.nlm.nih.gov/pubmed/31913476 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz280 |
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