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Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome
French Canadian Leigh Syndrome (LSFC) is an early-onset, progressive neurodegenerative disorder with a distinct pattern of tissue involvement. Most cases are caused by a founder missense mutation in LRPPRC. LRPPRC forms a ribonucleoprotein complex with SLIRP, another RNA-binding protein, and this st...
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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
2015
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4275074/ https://ncbi.nlm.nih.gov/pubmed/25214534 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu468 |
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