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Article

A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.

Clinical genetics - 1 Dec 2015

Tenorio J, Navas P, Barrios E, Fernández L, Nevado J, Quezada C A, López-Meseguer M, Arias P, Mena R, Lobo J L, Alvarez C, Heath K, Escribano-Subías P, Lapunzina P

Abstract excerpt

Pulmonary arterial hypertension (PAH) is a pathological condition characterized by a persistent and progressive elevation of pulmonary vascular resistance with devastating consequences if untreated. In the past recent years, several genes have been related to PAH, however, the molecular defect re...

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Identifiers

PMID: 25512148
DOI: 10.1111/cge.12549

Genes

PAH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25512148-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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