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- C Gregory Elliott.
- Department of Medicine, Intermountain Medical Center, 5121 South Cottonwood Street, Suite 307, Murray, UT 84107, USA; Department of Internal Medicine, University of Utah School of Medicine, 30 N. 1900 E, Salt Lake City, UT 84132, USA. Electronic address: greg.elliott@imail.org.
- Clin. Chest Med. 2013 Dec 1; 34 (4): 651-63.
AbstractPainstaking research led to the discovery of gene mutations responsible for heritable forms of pulmonary arterial hypertension (PAH). Mutations in the gene BMPR2, which codes for a cell surface receptor (BMPRII), cause the approximately 80% of heritable cases of PAH. Less commonly mutations in ALK1, CAV1, ENG, and SMAD9, and newly discovered mutations in KCNK3, may cause heritable PAH. Other family members of many patients diagnosed with idiopathic PAH may be diagnosed with PAH. Genetic counseling and testing should be offered to patients diagnosed with heritable or idiopathic PAH.Copyright © 2013 Elsevier Inc. All rights reserved.
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