Mutation in BMPR2 Promoter: A 'Second Hit' for Manifestation of Pulmonary Arterial Hypertension?

Hereditary pulmonary arterial hypertension (HPAH) can be caused by autosomal dominant inherited mutations of TGF-β genes, such as the bone morphogenetic protein receptor 2 (BMPR2) and Endoglin (ENG) gene. Additional modifier genes may play a role in disease manifestation and severity. In this study...

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Bibliographic Details
Main Authors: Rebecca Rodríguez Viales, Christina A Eichstaedt, Nicola Ehlken, Christine Fischer, Mona Lichtblau, Ekkehard Grünig, Katrin Hinderhofer
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4500409?pdf=render