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EIF2AK4 mutation as “second hit” in hereditary pulmonary arterial hypertension
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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5095976/ https://www.ncbi.nlm.nih.gov/pubmed/27809840 http://dx.doi.org/10.1186/s12931-016-0457-x |