Novel transferrin gene mutations in four new cases of congenital Atransferrinaemia: Functional and diagnostic pathogenicity despite negative bioinformatics

Affiliations

• ¹ Department of Biomedical Sciences, Iron Metabolism: Regulation and Diseases Group, Universitat Internacional de Catalunya (UIC), Sant Cugat del Vallès, Spain.
• ² BloodGenetics S.L. Diagnostics in Inherited Blood Diseases, Esplugues de Llobregat, Spain.
• ³ Bioinformatics and Bioimaging Group, Faculty of Science, Technology and Engineering, University of Vic-Central University of Catalonia, Vic, Spain.
• ⁴ Institute for Research and Innovation in Life and Health Sciences (IRIS-CC), University of Vic-Central University of Catalonia, Vic, Spain.
• ⁵ Program of Program of Predictive and Personalized Medicine of Cancer (PMPPC), Institut d'Investigació Germans Trias i Pujol (IGTP), Badalona, Spain.
• ⁶ Pediatric Hematology Department, Hospital Universitari Vall d'Hebrón, Barcelona, Spain.
• ⁷ Klinik für Kinder Und Jugendmedizin Hospital, Pediatrics and Neonatology Department, Aschaffenburg, Germany.
• ⁸ Prothya Biosolutions, Medical and Clinical Affairs, Amsterdam, the Netherlands.