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Article

Mutational and clinical analysis of the ENG gene in patients with pulmonary arterial hypertension.

BMC genetics - 4 Jun 2016

Pousada Guillermo, Baloira Adolfo, Fontán Diego, Núñez Marta, Valverde Diana

Abstract excerpt

BACKGROUND: Pulmonary arterial hypertension (PAH) is a rare vascular disorder characterized by a capillary wedge pressure ≤ 15 mmHg and a mean pulmonary arterial pressure ≥ 25 mmHg at rest. PAH can be idiopathic, heritable or associated with other conditions. The aim of this study was to analyze the Endoglin (ENG) gene and assess the influence of the c.572G > A (p.G191D) mutation in patients with idiopathic or...

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Topics

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Share to Age of Onset
Share to DNA Mutational Analysis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Genetic Predisposition to Disease

Share to Hypertension, Pulmonary

Share to Polymorphism, Single Nucleotide

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Source

Open in PubMed Open full text

Identifiers

PMID: 27260700
DOI: 10.1186/s12863-016-0384-3
PMCID: PMC4893224

Genes

PAH
ENG
ACVRL1
BMPR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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