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Article

High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension.

American journal of respiratory and critical care medicine - 1 Sept 2006

Cogan Joy D, Pauciulo Michael W, Batchman Amy P, Prince Melissa A, Robbins Ivan M, Hedges Lora K, Stanton Krista C, Wheeler Lisa A, Phillips John A, Loyd James E, Nichols William C

Abstract excerpt

RATIONALE: Previous studies have shown that approximately 55% of patients with familial pulmonary arterial hypertension (FPAH) have BMPR2 coding sequence mutations. However, direct sequencing does not detect other types of heterozygous mutations, such as exonic deletions/duplications. OBJECTIVE: To estimate the frequency of BMPR2 exonic deletions/duplications in FPAH. METHODS: BMPR2 mRNA from lymphoblastoid cell...

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Share to Mutation
Share to Bone Morphogenetic Protein Receptors, Type II

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hypertension, Pulmonary

Share to Nucleic Acid Amplification Techniques

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Source

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Identifiers

PMID: 16728714
DOI: 10.1164/rccm.200602-165OC
PMCID: PMC2648061

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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