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Role ofBMPR2 Alternative Splicing in HPAH Penetrance
BACKGROUND: Bone morphogenic protein receptor 2 (BMPR2) gene mutations are the most common cause of heritable PAH (HPAH). However only 20% of mutation carriers get clinical disease. Here we explored the hypothesis that this reduced penetrance is in part due to an alteration in BMPR2 alternative spli...
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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: |
2012
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4113011/ https://ncbi.nlm.nih.gov/pubmed/22923426 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCULATIONAHA.112.106245 |
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