Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III.

Autor: 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 Sanitaria Fundación Jiménez. Madrid, 28040., 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 Sanitaria Fundación Jiménez. Madrid, 28040., 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 Sanitaria Fundación Jiménez. Madrid, 28040., 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.
Jazyk: angličtina
Zdroj: Haematologica [Haematologica] 2023 Feb 01; Vol. 108 (2), pp. 581-587. Date of Electronic Publication: 2023 Feb 01.
DOI: 10.3324/haematol.2022.281277
Databáze: MEDLINE