Article
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Human mutation - 1 Dec 2015
Machado Rajiv D, Southgate Laura, Eichstaedt Christina A, Aldred Micheala A, Austin Eric D, Best D Hunter, Chung Wendy K, Benjamin Nicola, Elliott C Gregory, Eyries Mélanie, Fischer Christine, Gräf Stefan, Hinderhofer Katrin, Humbert Marc, Keiles Steven B, Loyd James E, Morrell Nicholas W, Newman John H, Soubrier Florent, Trembath Richard C, Viales Rebecca Rodríguez, Grünig Ekkehard
Abstract excerpt
Pulmonary arterial hypertension (PAH) is an often fatal disorder resulting from several causes including heterogeneous genetic defects. While mutations in the bone morphogenetic protein receptor type II (BMPR2) gene are the single most common causal factor for hereditary cases, pathogenic mutations have been observed in approximately 25% of idiopathic PAH patients without a prior family history of disease....
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