Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
Stefan Gräf,
Matthias Haimel,
Marta Bleda,
Charaka Hadinnapola,
Laura Southgate,
Wei Li,
Joshua Hodgson,
Bin Liu,
Richard M Salmon,
Mark Southwood,
Rajiv D Machado,
Jennifer M Martin,
Carmen M Treacy,
Katherine Yates,
Louise C Daugherty,
Olga Shamardina,
Deborah Whitehorn,
Simon Holden,
Micheala Aldred,
Harm J Bogaard,
Colin Church,
Gerry Coghlan,
Robin Condliffe,
Paul A Corris,
Cesare Danesino,
Mélanie Eyries,
Henning Gall,
Stefano Ghio,
Hossein-Ardeschir Ghofrani,
J Simon R Gibbs,
Barbara Girerd,
Arjan C Houweling,
Luke Howard,
Marc Humbert,
David G Kiely,
Gabor Kovacs,
Robert V MacKenzie Ross,
Shahin Moledina,
David Montani,
Michael Newnham,
Andrea Olschewski,
Horst Olschewski,
Andrew J Peacock,
Joanna Pepke-Zaba,
Inga Prokopenko,
Christopher J Rhodes,
Laura Scelsi,
Werner Seeger,
Florent Soubrier,
Dan F Stein,
Jay Suntharalingam,
Emilia M Swietlik,
Mark R Toshner,
David A van Heel,
Anton Vonk Noordegraaf,
Quinten Waisfisz,
John Wharton,
Stephen J Wort,
Willem H Ouwehand,
Nicole Soranzo,
Allan Lawrie,
Paul D Upton,
Martin R Wilkins,
Richard C Trembath,
Nicholas W Morrell
May 21, 2018
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...