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Autor:
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
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-16 (2018)
Nature Communications
Nature Communications, 9. Nature Publishing Group
Graf, S, Haimel, M, Bleda, M, Hadinnapola, C, Southgate, L, Li, W, Hodgson, J, Liu, B, Salmon, R M, Southwood, M, Machado, R D, Martin, J M, Treacy, C M, Yates, K, Daugherty, L C, Shamardina, O, Whitehorn, D, Holden, S, Aldred, M, Bogaard, H J, Church, C, Coghlan, G, Condliffe, R, Corris, P A, Danesino, C, Eyries, M, Gall, H, Ghio, S, Ghofrani, H-A, Gibbs, J S R, Girerd, B, Houweling, A C, Howard, L, Humbert, M, Kiely, D G, Kovacs, G, Ross, R V M, Moledina, S, Montani, D, Newnham, M, Olschewski, A, Olschewski, H, Peacock, A J, Pepke-Zaba, J, Prokopenko, I, Rhodes, C J, Scelsi, L, Seeger, W, Soubrier, F, Stein, D F, Suntharalingam, J, Swietlik, E M, Toshner, M R, van Heel, D A, Noordegraaf, A V, Waisfisz, Q, Wharton, J, Wort, S J, Ouwehand, W H, Soranzo, N, Lawrie, A, Upton, P D, Wilkins, M R, Trembath, R C & Morrell, N W 2018, ' Identification of rare sequence variation underlying heritable pulmonary arterial hypertension ', Nature Communications, vol. 9 . https://doi.org/10.1038/s41467-018-03672-4
Nature communications, vol 9, iss 1
Nature Communications
Nature Communications, 9. Nature Publishing Group
Graf, S, Haimel, M, Bleda, M, Hadinnapola, C, Southgate, L, Li, W, Hodgson, J, Liu, B, Salmon, R M, Southwood, M, Machado, R D, Martin, J M, Treacy, C M, Yates, K, Daugherty, L C, Shamardina, O, Whitehorn, D, Holden, S, Aldred, M, Bogaard, H J, Church, C, Coghlan, G, Condliffe, R, Corris, P A, Danesino, C, Eyries, M, Gall, H, Ghio, S, Ghofrani, H-A, Gibbs, J S R, Girerd, B, Houweling, A C, Howard, L, Humbert, M, Kiely, D G, Kovacs, G, Ross, R V M, Moledina, S, Montani, D, Newnham, M, Olschewski, A, Olschewski, H, Peacock, A J, Pepke-Zaba, J, Prokopenko, I, Rhodes, C J, Scelsi, L, Seeger, W, Soubrier, F, Stein, D F, Suntharalingam, J, Swietlik, E M, Toshner, M R, van Heel, D A, Noordegraaf, A V, Waisfisz, Q, Wharton, J, Wort, S J, Ouwehand, W H, Soranzo, N, Lawrie, A, Upton, P D, Wilkins, M R, Trembath, R C & Morrell, N W 2018, ' Identification of rare sequence variation underlying heritable pulmonary arterial hypertension ', Nature Communications, vol. 9 . https://doi.org/10.1038/s41467-018-03672-4
Nature communications, vol 9, iss 1
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