Hereditary hyperferritinaemia cataract syndrome

A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract

Domenico Girelli, OLIVIERO OUVIERI, Lucia De Franceschi et al. · British Journal of Haematology · 1995 · 122 citations

Medicine, Genetics, Molecular Genetics +17

Analysis of Ferritins in Lymphoblastoid Cell Lines and in the Lens of Subjects With Hereditary Hyperferritinemia-Cataract Syndrome

Sonia Levi, Domenico Girelli, Federica Perrone et al. · Blood · 1998 · 95 citations

Medicine, Immunology, Ophthalmology +8

Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome

Sara Luscieti, Gabriele Tolle, Jessica Aranda et al. · Orphanet Journal of Rare Diseases · 2013 · 50 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14