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Article

EIF2AK4 mutation as "second hit" in hereditary pulmonary arterial hypertension.

Respiratory research - 4 Nov 2016

Eichstaedt Christina A, Song Jie, Benjamin Nicola, Harutyunova Satenik, Fischer Christine, Grünig Ekkehard, Hinderhofer Katrin

Abstract excerpt

BACKGROUND: Mutations in the eukaryotic translation initiation factor 2α kinase 4 (EIF2AK4) gene have recently been identified in recessively inherited veno-occlusive disease. In this study we assessed if EIF2AK4 mutations occur also in a family with autosomal dominantly inherited pulmonary arterial hypertension (HPAH) and incomplete penetrance of bone morphogenic protein receptor 2 (BMPR2) mutations. METHODS:...

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Share to Arterial Pressure
Share to Bone Morphogenetic Protein Receptors, Type II

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Heredity

Share to Hypertension, Pulmonary

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Share to Protein Serine-Threonine Kinases

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Source

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Identifiers

PMID: 27809840
DOI: 10.1186/s12931-016-0457-x
PMCID: PMC5095976

Genes

PAH
BMPR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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