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Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III.
Hernández, Gonzalo; Romero-Cortadellas, Lídia; Ferrer-Cortès, Xènia; Venturi, Veronica; Dessy-Rodriguez, Mercedes; Olivella, Mireia; Husami, Ammar; De Soto, Concepción Pérez; Morales-Camacho, Rosario M; Villegas, Ana; González-Fernández, Fernando-Ataulfo; Morado, Marta; Kalfa, Theodosia A; Quintana-Bustamante, Oscar; Pérez-Montero, Santiago; Tornador, Cristian; Segovia, Jose-Carlos; Sánchez, Mayka.
Affiliation
  • Hernández G; Department of Basic Sciences, Iron metabolism: Regulation and Diseases Group. Universitat Internacional de Catalunya (UIC). Sant Cugat del Vallès, 08195, Spain; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat, 08950.
  • Romero-Cortadellas L; Department of Basic Sciences, Iron metabolism: Regulation and Diseases Group. Universitat Internacional de Catalunya (UIC). Sant Cugat del Vallès, 08195.
  • Ferrer-Cortès X; Department of Basic Sciences, Iron metabolism: Regulation and Diseases Group. Universitat Internacional de Catalunya (UIC). Sant Cugat del Vallès, 08195, Spain; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat, 08950.
  • Venturi V; Department of Basic Sciences, Iron metabolism: Regulation and Diseases Group. Universitat Internacional de Catalunya (UIC). Sant Cugat del Vallès, 08195.
  • Dessy-Rodriguez M; Cell Technology Division. Biomedical Innovative Unit. Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, 28040, Spain; Unidad Mixta de Terapias Avanzadas. Instituto de Investigación San
  • Olivella M; Biosciences Department, Faculty of Sciences and Technology (FCT), Universitat de Vic - Universitat Central de Catalunya (UVic-UCC). Vic, 08500.
  • Husami A; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267.
  • De Soto CP; Service of Pediatric Hematology, Hospital Universitario Virgen del Rocío, UGC HH. HHUUVR. Sevilla, 41013.
  • Morales-Camacho RM; Department of Hematology, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla (IBIS/CISC/CIBERONC). Universidad de Sevilla, Sevilla, 41013.
  • Villegas A; Service of Hematology, Hospital Clínico San Carlos. Universidad Complutense, Madrid, 28040.
  • González-Fernández FA; Service of Hematology, Hospital Clínico San Carlos. Universidad Complutense, Madrid, 28040.
  • Morado M; Service of Hematology, Hospital La Paz, Madrid, 28046.
  • Kalfa TA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA; Division of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229.
  • Quintana-Bustamante O; Cell Technology Division. Biomedical Innovative Unit. Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, 28040, Spain; Unidad Mixta de Terapias Avanzadas. Instituto de Investigación San
  • Pérez-Montero S; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat, 08950.
  • Tornador C; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat, 08950.
  • Segovia JC; Cell Technology Division. Biomedical Innovative Unit. Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, 28040, Spain; Unidad Mixta de Terapias Avanzadas. Instituto de Investigación San
  • Sánchez M; Department of Basic Sciences, Iron metabolism: Regulation and Diseases Group. Universitat Internacional de Catalunya (UIC). Sant Cugat del Vallès, 08195, Spain; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat, 08950. msanchezfe@uic.es.
Haematologica ; 108(2): 581-587, 2023 02 01.
Article de En | MEDLINE | ID: mdl-36200420
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Anémie dysérythropoïétique congénitale Limites: Humans Langue: En Journal: Haematologica Année: 2023 Type de document: Article
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Anémie dysérythropoïétique congénitale Limites: Humans Langue: En Journal: Haematologica Année: 2023 Type de document: Article