Hereditary hyperferritinemia-cataract syndrome: a novel mutation in the iron-responsive element of the L-ferritin gene in a French family.
Garderet
Laurent
L
Hermelin
Brigitte
B
Gorin
Norbert Claude
NC
Rosmorduc
Olivier
O
D000328:Adult; D001052:Apoferritins; D002386:Cataract / Q000097:blood* / Q000235:genetics*; D005192:Family Health; D005260:Female; D005293:Ferritins / Q000097:blood* / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007501:Iron / Q000097:blood; D035925:Iron-Regulatory Proteins / Q000097:blood / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D013577:Syndrome; D014168:Transferrin / Q000235:genetics / Q000378:metabolism
D035925:Iron-Regulatory Proteins; D014168:Transferrin; D005293:Ferritins; D001052:Apoferritins; D007501:Iron