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Article

Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension.

Respiratory research - 28 Sept 2009

Austin Eric D, Phillips John A, Cogan Joy D, Hamid Rizwan, Yu Chang, Stanton Krista C, Phillips Charles A, Wheeler Lisa A, Robbins Ivan M, Newman John H, Loyd James E

Abstract excerpt

BACKGROUND: Autosomal dominant inheritance of germline mutations in the bone morphogenetic protein receptor type 2 (BMPR2) gene are a major risk factor for pulmonary arterial hypertension (PAH). While previous studies demonstrated a difference in severity between BMPR2 mutation carriers and nonca...

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Share to Bone Morphogenetic Protein Receptors, Type II
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypertension, Pulmonary

Share to Incidence

Share to Mutation, Missense

Share to Polymorphism, Single Nucleotide

Share to Severity of Illness Index

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Source

Open in PubMed Open full text

Identifiers

PMID: 19785764
DOI: 10.1186/1465-9921-10-87
PMCID: PMC2762975

Genes

BMPR2
PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19785764-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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