Associated Papers
A new case of congenital atransferrinemia with a novel splice site mutation: c.293-63del.
Dabboubi R et al.
European Journal of Medical Genetics, 2020
Hereditary hypotransferrinemia can lead to elevated transferrin saturation and, when associated to HFE or HAMP mutations, to iron overload.
Beaumont-Epinette MP et al.
Blood Cells, Molecules & Diseases, 2015
Two novel missense mutations in iron transport protein transferrin causing hypochromic microcytic anaemia and haemosiderosis: molecular characterization and structural implications.
Athiyarath R et al.
British Journal of Haematology, 2013
Select a paper to view details