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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Vydáno v:PLoS One
Hlavní autoři: Viales, Rebecca Rodríguez, Eichstaedt, Christina A., Ehlken, Nicola, Fischer, Christine, Lichtblau, Mona, Grünig, Ekkehard, Hinderhofer, Katrin
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2015
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4500409/
https://ncbi.nlm.nih.gov/pubmed/26167679
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0133042
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