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Article

Variable Expressivity of a Founder Mutation in the EIF2AK4 Gene in Hereditary Pulmonary Veno-occlusive Disease and Its Impact on Survival.

Revista espanola de cardiologia (English ed.) - 1 Feb 2018

Navas Tejedor Paula, Palomino Doza Julián, Tenorio Castaño Jair Antonio, Enguita Valls Ana Belén, Rodríguez Reguero José Julián, Martínez Meñaca Amaya, Hernández González Ignacio, Bueno Zamora Héctor, Lapunzina Badía Pablo Daniel, Escribano Subías Pilar

Abstract excerpt

INTRODUCTION AND OBJECTIVES: Hereditary pulmonary veno-occlusive disease (PVOD) has been associated with biallelic mutations in EIF2AK4 with the recent discovery of a founder mutation in Iberian Romani patients with familial PVOD. The aims of this study were phenotypical characterization and surv...

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PMID: 28697925
DOI: 10.1016/j.rec.2017.03.034

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-28697925-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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