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The macular degeneration-linked C1QTNF5 (S163) mutation causes higher-order structural rearrangements
The C1q-tumor necrosis factor 5 (C1QTNF5) protein plays a significant role in retinal pigmented epithelium (RPE) cellular adhesion. The C1QTNF5 gene is co-transcribed with the frizzled-related protein (MFRP) gene. A Ser-to-Arg mutation at site 163 (S163R) in C1QTNF5 is known to cause late-onset reti...
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| 主要な著者: | , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2014
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3993933/ https://ncbi.nlm.nih.gov/pubmed/24531000 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jsb.2014.02.001 |
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