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Abnormal Trafficking of Endogenously Expressed BMPR2 Mutant Allelic Products in Patients with Heritable Pulmonary Arterial Hypertension

More than 200 heterozygous mutations in the type 2 BMP receptor gene, BMPR2, have been identified in patients with Heritable Pulmonary Arterial Hypertension (HPAH). More severe clinical outcomes occur in patients with BMPR2 mutations by-passing nonsense-mediated mRNA decay (NMD negative mutations)....

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Библиографические подробности
Главные авторы: Frump, Andrea L., Lowery, Jonathan W., Hamid, Rizwan, Austin, Eric D., de Caestecker, Mark
Формат: Artigo
Язык:Inglês
Опубликовано: Public Library of Science 2013
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3818254/
https://ncbi.nlm.nih.gov/pubmed/24224048
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0080319
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