Article

Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

2017-09-06

Abstract excerpt

Pulmonary arterial hypertension (PAH) is a rare disorder with a poor prognosis. Deleterious variation within components of the transforming growth factor-β pathway, particularly the bone morphogenetic protein type 2 receptor ( BMPR2 ), underlie most heritable forms of PAH. Since the missing heritability likely involves genetic variation confined to small numbers of cases, we performed whole genome sequencing in 1...

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Literature Corpus work: 48bcda78-9a99-531f-8983-348478df77c3
DOI: 10.1101/185272

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