Novel transferrin gene mutations in four new cases of congenital Atransferrinaemia: Functional and diagnostic pathogenicity despite negative bioinformatics.
Lídia Romero-CortadellasXènia Ferrer-CortèsLaura Calvo-LópezMireia OlivellaAnna BarquéChristina Diaz de HerediaKatja MoserIlona Kleine BuddeMayka SanchezPublished in: British journal of haematology (2024)