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Article

GermlineBMP9mutation causes idiopathic pulmonary arterial hypertension

21 Dec 2018

Abstract excerpt

Background Idiopathic pulmonary arterial hypertension (IPAH) is a rare disease with high heritability. Although several predisposing genes have been linked to IPAH, the genetic aetiology remains unknown for a large number of IPAH cases. Methods We conducted an exome-wide gene-based burden analysis on two independent case–control studies, including a total of 331 IPAH cases and 10 508 controls. Functional...

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PMID: 30578397
DOI: 10.1183/13993003.01609-2018

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