CLONING THE GENE OF JUVENILE HEMOCHROMATOSIS, A GENETIC DISORDER DISTINCT FROM HEMOCHROMATOSIS
- 2 Anni 1998/2000
- 61.975€ Totale Fondi
Descrizione non disponibile
Pubblicazioni Scientifiche
- 2000 BLOOD CELLS MOLECULES AND DISEASES
Exclusion of ZIRTL as candidate gene of juvenile hemochromatosis and refinement of the critical interval on 1q21
- 2000 NATURE GENETICS
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
- 1999 AMERICAN JOURNAL OF HUMAN GENETICS
Juvenile hemochromatosis locus maps to chromosome 1q
- 2000 BRITISH JOURNAL OF HAEMATOLOGY
A new mutation (G51C) in the iron-responsive element (IRE) of L-ferritin associated with hyperferritinaemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins
