Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Eichstaedt, Christina A., Song, Jie, Benjamin, Nicola, Harutyunova, Satenik, Fischer, Christine, Grünig, Ekkehard, Hinderhofer, Katrin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
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