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Article

A novel mutation in the BMPR2 gene in familial pulmonary arterial hypertension.

Chinese medical journal - 5 Mar 2008

Fu Li-jun, Zhou Ai-qing, Huang Mei-rong, Shen Shu-hong, Shen Jie, Zhang Zhi-fang, Li Fen

Abstract excerpt

BACKGROUND: Familial pulmonary arterial hypertension (FPAH) is an autosomal dominant disorder characterized by plexiform lesions of endothelial cells in pulmonary arterioles which leads to elevated pulmonary arterial pressure, right-sided heart failure and death. Heterozygous mutations in the bone morphogenetic protein type II receptor gene (BMPR2) have been found to underlie a majority of FPAH cases. More than...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18364108

Genes

BMPR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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