Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học 'Respiratory Research cung cấp cho các bạn kiến thức về ngành y đề tài:"Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension. | Respiratory Research BioMed Central Research Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension Eric D Austin 1 John A Phillips1 Joy D Cogan1 Rizwan Hamid1 Chang Yu2 Krista C Stanton1 Charles A Phillips1 Lisa A Wheeler3 Ivan M Robbins3 John H Newman3 and James E Loyd3 Open Access Address Department of Pediatrics Vanderbilt University Medical Center Nashville TN USA 2Department of Biostatistics Vanderbilt University Medical Center Nashville TN USA and 3Department of Medicine Vanderbilt University Medical Center Nashville TN USA Email Eric D Austin - John A Phillips - Joy D Cogan - Rizwan Hamid - Chang Yu - Krista C Stanton - kristastanton@ Charles A Phillips - charlesphillips@ Lisa A Wheeler - Ivan M Robbins - John H Newman - James E Loyd - Corresponding author Published 28 September 2009 Received 22 May 2009 Respiratory Research 2009 10 87 doi 1465-9921-10-87 Accepted 28 September 2009 This article is available from http content 10 1 87 2009 Austin et al licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http licenses by which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract Background Autosomal dominant inheritance of germline mutations in the bone morphogenetic protein receptor type 2 BMPR2 gene are a major risk factor for pulmonary arterial hypertension PAH . While previous studies demonstrated a difference in severity between BMPR2 mutation carriers and noncarriers it is likely disease severity is not equal among BMPR2 mutations. We
