L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases.
Pharmaceuticals (Basel, Switzerland)
Cadenas, Beatriz B; Fita-Torró, Josep J; Bermúdez-Cortés, Mar M; Hernandez-Rodriguez, Inés I; Fuster, José Luis JL; Llinares, María Esther ME; Galera, Ana María AM; Romero, Julia Lee JL; Pérez-Montero, Santiago S; Tornador, Cristian C; Sanchez, Mayka M
Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.
Orphanet Journal Of Rare Diseases
Luscieti, Sara S; Tolle, Gabriele G; Aranda, Jessica J; Campos, Carmen Benet CB; Risse, Frank F; Morán, Érica É; Muckenthaler, Martina U MU; Sánchez, Mayka M