Characterization of new mutations in transferrin, DMT1 and SEC23B causing rare iron metabolism-related diseases; and the discovery of RACGAP1 as the gene responsible for autosomal recessive congenital dyserythropoietic anaemia type III 

Romero Cortadellas, Lídia (Date of defense: 2023-09-22)

Iron is a biometal involved in many physiological processes that are essential for life. Iron metabolism is a complex and tightly regulated process both at the systemic and cellular level. Proper iron homeostasis relies ...