Identification of a novel mutation in the L ferritin iron-responsive element causing hereditary hyperferritinemia-cataract syndrome.
Messa
E
E
Division of Hematology and Internal Medicine, Department of Clinical and Biological Sciences of the University of Turin, Turin, Italy. emanuela.messa@unito.it
Pellegrino
R M
RM
Palmieri
A
A
Carturan
S
S
Cilloni
D
D
Saglio
G
G
Roetto
A
A
D001052:Apoferritins / Q000235:genetics*; D001483:Base Sequence; D001665:Binding Sites / Q000235:genetics; D002386:Cataract / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005293:Ferritins / Q000097:blood*; D005799:Genes, Dominant; D006801:Humans; D035925:Iron-Regulatory Proteins / Q000235:genetics; D007558:Italy; D008297:Male; D009690:Nucleic Acid Conformation; D010375:Pedigree; D017354:Point Mutation; D011401:Promoter Regions, Genetic; D013577:Syndrome
D035925:Iron-Regulatory Proteins; D004247:DNA; D005293:Ferritins; D001052:Apoferritins