Article
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.
Circulation - 21 Nov 2017
Hadinnapola Charaka, Bleda Marta, Haimel Matthias, Screaton Nicholas, Swift Andrew, Dorfmüller Peter, Preston Stephen D, Southwood Mark, Hernandez-Sanchez Jules, Martin Jennifer, Treacy Carmen, Yates Katherine, Bogaard Harm, Church Colin, Coghlan Gerry, Condliffe Robin, Corris Paul A, Gibbs Simon, Girerd Barbara, Holden Simon, Humbert Marc, Kiely David G, Lawrie Allan, Machado Rajiv, MacKenzie Ross Robert, Moledina Shahin, Montani David, Newnham Michael, Peacock Andrew, Pepke-Zaba Joanna, Rayner-Matthews Paula, Shamardina Olga, Soubrier Florent, Southgate Laura, Suntharalingam Jay, Toshner Mark, Trembath Richard, Vonk Noordegraaf Anton, Wilkins Martin R, Wort Stephen J, Wharton John, Gräf Stefan, Morrell Nicholas W
Abstract excerpt
BACKGROUND: Pulmonary arterial hypertension (PAH) is a rare disease with an emerging genetic basis. Heterozygous mutations in the gene encoding the bone morphogenetic protein receptor type 2 (BMPR2) are the commonest genetic cause of PAH, whereas biallelic mutations in the eukaryotic translation initiation factor 2 alpha kinase 4 gene (EIF2AK4) are described in pulmonary veno-occlusive disease/pulmonary capillary...
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