Article
A novel channelopathy in pulmonary arterial hypertension.
The New England journal of medicine - 25 Jul 2013
Ma Lijiang, Roman-Campos Danilo, Austin Eric D, Eyries Mélanie, Sampson Kevin S, Soubrier Florent, Germain Marine, Trégouët David-Alexandre, Borczuk Alain, Rosenzweig Erika Berman, Girerd Barbara, Montani David, Humbert Marc, Loyd James E, Kass Robert S, Chung Wendy K
Abstract excerpt
BACKGROUND: Pulmonary arterial hypertension is a devastating disease with high mortality. Familial cases of pulmonary arterial hypertension are usually characterized by autosomal dominant transmission with reduced penetrance, and some familial cases have unknown genetic causes. METHODS: We studied a family in which multiple members had pulmonary arterial hypertension without identifiable mutations in any of the...
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