Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

Pulmonary arterial hypertension (PAH) is a rare disorder with a poor prognosis. Deleterious variation within components of the transforming growth factor-β pathway, particularly the bone morphogenetic protein type 2 receptor (BMPR2), underlies most heritable forms of PAH. To identify the missing her...

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Detalles Bibliográficos
Autores principales: Gräf, Stefan, Haimel, Matthias, Bleda, Marta, Hadinnapola, Charaka, Southgate, Laura, Li, Wei, Hodgson, Joshua, Liu, Bin, Salmon, Richard M., Southwood, Mark, Machado, Rajiv D., Martin, Jennifer M., Treacy, Carmen M., Yates, Katherine, Daugherty, Louise C., Shamardina, Olga, Whitehorn, Deborah, Holden, Simon, Aldred, Micheala, Bogaard, Harm J., Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A., Danesino, Cesare, Eyries, Mélanie, Gall, Henning, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, J. Simon R., Girerd, Barbara, Houweling, Arjan C., Howard, Luke, Humbert, Marc, Kiely, David G., Kovacs, Gabor, MacKenzie Ross, Robert V., Moledina, Shahin, Montani, David, Newnham, Michael, Olschewski, Andrea, Olschewski, Horst, Peacock, Andrew J., Pepke-Zaba, Joanna, Prokopenko, Inga, Rhodes, Christopher J., Scelsi, Laura, Seeger, Werner, Soubrier, Florent, Stein, Dan F., Suntharalingam, Jay, Swietlik, Emilia M., Toshner, Mark R., van Heel, David A., Vonk Noordegraaf, Anton, Waisfisz, Quinten, Wharton, John, Wort, Stephen J., Ouwehand, Willem H., Soranzo, Nicole, Lawrie, Allan, Upton, Paul D., Wilkins, Martin R., Trembath, Richard C., Morrell, Nicholas W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5897357/
https://www.ncbi.nlm.nih.gov/pubmed/29650961
http://dx.doi.org/10.1038/s41467-018-03672-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5897357/
https://www.ncbi.nlm.nih.gov/pubmed/29650961
http://dx.doi.org/10.1038/s41467-018-03672-4

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