Mutation in the Gene for Bone Morphogenetic Protein Receptor II as a Cause of Primary Pulmonary Hypertension in a Large Kindred
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Open Access
- 2 August 2001
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 345 (5) , 319-324
- https://doi.org/10.1056/nejm200108023450502
Abstract
Most patients with primary pulmonary hypertension are thought to have sporadic, not inherited, disease. Because clinical disease develops in only 10 to 20 percent of persons carrying the gene for familial primary pulmonary hypertension, we hypothesized that many patients with apparently sporadic primary pulmonary hypertension may actually have familial primary pulmonary hypertension.Keywords
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