title: Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency.
authors.affiliation: Serviço de Hematologia Clínica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Avenida Afonso Romão, 3000-602, Coimbra, Portugal.
authors.forename: Janet
authors.initials: J
authors.lastname: Pereira
authors.affiliation: Serviço de Hematologia Clínica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Avenida Afonso Romão, 3000-602, Coimbra, Portugal. celeste.bento@chuc.min-saude.pt.
authors.forename: Celeste
authors.initials: C
authors.lastname: Bento
authors.affiliation: Serviço de Hematologia Clínica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Avenida Afonso Romão, 3000-602, Coimbra, Portugal.
authors.forename: Licinio
authors.initials: L
authors.lastname: Manco
authors.affiliation: Departamento de Hematología, Hospital Clínico San Carlos, Madrid, Spain.
authors.forename: Ataulfo
authors.initials: A
authors.lastname: Gonzalez
authors.affiliation: Departamento de Hematología Pediátrica, Hospital Materno Infantil, Badajoz, Spain.
authors.forename: Jose
authors.initials: J
authors.lastname: Vagace
authors.affiliation: Serviço de Hematologia Clínica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Avenida Afonso Romão, 3000-602, Coimbra, Portugal.
authors.forename: Maria Letícia
authors.initials: ML
authors.lastname: Ribeiro
mesh_terms: D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D050982:GATA1 Transcription Factor / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D011770:Pyruvate Kinase / Q000172:deficiency / Q000235:genetics*
chemical_list: D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human; D011770:Pyruvate Kinase