A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome.
Aguilar-Martinez
P
P
Biron
C
C
Masmejean
C
C
Jeanjean
P
P
Schved
J F
JF
D000328:Adult; D002386:Cataract / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005293:Ferritins / Q000097:blood* / Q000235:genetics*; D005786:Gene Expression Regulation / Q000187:drug effects; D005796:Genes; D006801:Humans; D007501:Iron / Q000494:pharmacology; D008297:Male; D017354:Point Mutation; D013577:Syndrome
D005293:Ferritins; D007501:Iron