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Article

[Mutations in the gene encoding bone morphogenetic protein receptor 2 in patients with idiopathic pulmonary arterial hypertension].

Archivos de bronconeumologia - 1 Jan 2008

Baloira Adolfo, Vilariño Carlos, Leiro Virginia, Valverde Diana

Abstract excerpt

OBJECTIVE: Pulmonary arterial hypertension (PAH) is a rare disease that can have a familial component. It has been shown that more than 50% of cases of familial PAH are associated with mutations in the gene encoding bone morphogenetic protein receptor 2 (BMPR2), which acts as a receptor for members of the transforming growth factor beta superfamily. Some studies in patients with idiopathic PAH have also shown...

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Source

Identifiers

PMID: 18221724
DOI: 10.1016/s1579-2129(08)60006-3

Genes

PAH
BMPR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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