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

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Bibliographic Details
Published inArchivos de bronconeumología (English ed.) Vol. 52; no. 8; pp. 444 - 445
Main Authors Navas, Paula, Rodriguez Reguero, Jose Julián, Escribano Subías, Pilar
Format Journal Article
LanguageEnglish
Published Spain Elsevier España, S.L.U 01.08.2016
Subjects
Adult
Carrier State - ethnology
Consanguinity
Early Diagnosis
Founder Effect
Genes, Recessive
Humans
Internal Medicine
Protein-Serine-Threonine Kinases - genetics
Pulmonary Veno-Occlusive Disease - ethnology
Pulmonary Veno-Occlusive Disease - genetics
Pulmonary/Respiratory
Roma - genetics
Spain - epidemiology
Young Adult
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ISSN:1579-2129
1579-2129
DOI:10.1016/j.arbr.2016.06.011