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The heterozygote advantage of the Chuvash polycythemia VHL(R200W) mutation may be protection against anemia
The germ-line loss-of-function VHL(R200W) mutation is common in Chuvashia, Russia and occurs in other parts of the world. VHL(R200W) homozygotes have elevated hypoxia inducible factor (HIF)-1 and HIF-2 levels, increased hemoglobin concentration, propensity to thrombosis and early mortality. Because...
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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: |
Ferrata Storti Foundation
2011
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3166109/ https://ncbi.nlm.nih.gov/pubmed/21606165 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2011.045609 |
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