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Article

Complex inheritance in Pulmonary Arterial Hypertension patients with several mutations.

Scientific reports - 15 Sept 2016

Pousada Guillermo, Baloira Adolfo, Valverde Diana

Abstract excerpt

Pulmonary Arterial Hypertension (PAH) is a rare and progressive disease with low incidence and prevalence, and elevated mortality. PAH is characterized by increased mean pulmonary artery pressure. The aim of this study was to analyse patients with combined mutations in BMPR2, ACVRL1, ENG and KCNA5 genes and to establish a genotype-phenotype correlation. Major genes were analysed by polymerase chain reaction (PCR)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hypertension, Pulmonary

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Source

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Identifiers

PMID: 27630060
DOI: 10.1038/srep33570
PMCID: PMC5024326

Genes

PAH
ACVRL1
BMPR2
ENG
KCNA5

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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