title: Founder mutation C.3344C>t(p.Pro1115Leu) in the EIF2KA4 gene in iberian romani patients with pulmonary veno-occlusive disease: A warning for our daily practice.
authors.affiliation: Servicio de Cardiología, Hospital Universitario Gregorio Marañón, Madrid, España; Red de investigación Cardiovascular, Instituto de Salud Carlos III, Madrid, España. Electronic address: paulanavastejedor@gmail.com.
authors.forename: Paula
authors.initials: P
authors.lastname: Navas
authors.affiliation: Servicio de Cardiología, Hospital Central de Asturias, Oviedo, Asturias, España.
authors.forename: Jose Julián
authors.initials: JJ
authors.lastname: Rodriguez Reguero
authors.affiliation: Unidad Multidisciplinar de Hipertensión Pulmonar, Servicio de Cardiología, Hospital Universitario Doce de Octubre, Red de investigación Cardiovascular, Instituto de Salud Carlos III, Madrid, España.
authors.forename: Pilar
authors.initials: P
authors.lastname: Escribano Subías
mesh_terms: D000328:Adult; D002353:Carrier State / Q000208:ethnology; D003241:Consanguinity; D042241:Early Diagnosis; D018703:Founder Effect; D005808:Genes, Recessive; D006801:Humans; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D011668:Pulmonary Veno-Occlusive Disease / Q000208:ethnology / Q000235:genetics*; D006178:Romani People / Q000235:genetics*; D013030:Spain / Q000453:epidemiology; D055815:Young Adult
chemical_list: C529271:EIF2AK4 protein, human; D017346:Protein Serine-Threonine Kinases