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Targeted sequencing approach to identify genetic mutations in Nasu-Hakola disease
Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder characterized by sclerosing leukoencephalopathy and multifocal bone cysts, caused by a loss-of-function mutation of either TYROBP (DAP12) or TREM2. TREM2 and DAP12 constitute a receptor/adaptor signaling complex expressed exclusively o...
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| 出版年: | Intractable Rare Dis Res |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5116862/ https://ncbi.nlm.nih.gov/pubmed/27904822 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2016.01064 |
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