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Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females

Mutations in bone morphogenetic protein receptor type 2 (BMPR2) cause familial pulmonary arterial hypertension (FPAH), but the penetrance is reduced and females are significantly overrepresented. In addition, gene expression data implicating the oestrogen-metabolising enzyme CYP1B1 suggests a detrim...

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Main Authors: Austin, E.D., Cogan, J.D., West, J.D., Hedges, L.K., Hamid, R., Dawson, E.P., Wheeler, L.A., Parl, F.F., Loyd, J.E., Phillips, J.A.
Formato: Artigo
Idioma:Inglês
Publicado: 2009
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3742124/
https://ncbi.nlm.nih.gov/pubmed/19357154
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1183/09031936.00010409
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