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Article

Copy-number variation in BMPR2 is not associated with the pathogenesis of pulmonary arterial hypertension.

BMC medical genetics - 16 Jun 2009

Johnson Jennifer A, Vnencak-Jones Cindy L, Cogan Joy D, Loyd James E, West James

Abstract excerpt

BACKGROUND: Copy-number variations (CNVs) are structural variations in the genome involving 1 kb to 3 mb of DNA. CNV has been reported within intron 1 of the BMPR2 gene. We propose that CNV could affect phenotype in familial and/or sporadic pulmonary arterial hypertension (PAH) by altering gene expression. METHODS: 97 human DNA samples were obtained which included 24 patients with familial PAH, 18 obligate...

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Source

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Identifiers

PMID: 19531247
DOI: 10.1186/1471-2350-10-58
PMCID: PMC2706815

Genes

BMPR2
PAH

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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