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Novel loci interacting epistatically with Bone Morphogenetic Protein Receptor 2 cause familial pulmonary arterial hypertension

BACKGROUND: Familial pulmonary arterial hypertension (FPAH) is a rare, autosomal-dominant inherited disease with low penetrance. Mutations in the Bone Morphogenetic Protein Receptor 2 (BMPR2) have been identified in at least 70% of FPAH patients. However, the lifetime penetrance of these BMPR2 mutat...

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Библиографические подробности
Главные авторы: Rodriguez-Murillo, Laura, Subaran, Ryan, Stewart, William C. L., Pramanik, Sreemanta, Marathe, Sudhir, Barst, Robyn J., Chung, Wendy K., Greenberg, David A.
Формат: Artigo
Язык:Inglês
Опубликовано: 2009
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2815041/
https://ncbi.nlm.nih.gov/pubmed/19864167
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.healun.2009.08.022
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