Hereditary hyperferritinemia-cataract syndrome: two novel mutations in the L-ferritin iron-responsive element.
Mumford
A D
AD
Vulliamy
T
T
Lindsay
J
J
Watson
A
A
D000328:Adult; D017668:Age of Onset; D001052:Apoferritins; D001483:Base Sequence; D002386:Cataract / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005293:Ferritins / Q000097:blood* / Q000235:genetics*; D005786:Gene Expression Regulation; D006801:Humans; D007501:Iron; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009690:Nucleic Acid Conformation; D017354:Point Mutation; D012045:Regulatory Sequences, Nucleic Acid; D013577:Syndrome
D005293:Ferritins; D001052:Apoferritins; D007501:Iron