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Article

Novel promoter and exon mutations of the BMPR2 gene in Chinese patients with pulmonary arterial hypertension.

European journal of human genetics : EJHG - 1 Aug 2009

Wang Hu, Li Wen, Zhang Weili, Sun Kai, Song Xiaodong, Gao Shuo, Zhang Channa, Hui Rutai, Hu Hong

Abstract excerpt

Pulmonary arterial hypertension (PAH), which is clinically characterized by a sustained elevation in mean pulmonary artery pressure leading to significant morbidity and mortality, is caused by intense remodeling of small pulmonary arteries by endothelial and smooth muscle proliferation. Genetic studies in familial PAH (FPAH) have revealed heterozygous germline mutations in the bone morphogenetic protein type II...

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Topics

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Share to Bone Morphogenetic Protein Receptors, Type II
Share to Cells, Cultured

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Hypertension, Pulmonary

Share to Promoter Regions, Genetic

Share to Pulmonary Artery

Source

Open in PubMed Open full text

Identifiers

PMID: 19223935
DOI: 10.1038/ejhg.2009.3
PMCID: PMC2986562

Genes

BMPR2
PAH

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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