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

BACKGROUND: 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...

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Detalles Bibliográficos
Autores principales: Viales, Rebecca Rodríguez, Eichstaedt, Christina A., Ehlken, Nicola, Fischer, Christine, Lichtblau, Mona, Grünig, Ekkehard, Hinderhofer, Katrin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4500409/
https://www.ncbi.nlm.nih.gov/pubmed/26167679
http://dx.doi.org/10.1371/journal.pone.0133042