Hereditary hyperferritinemia cataract syndrome: a de novo mutation in the iron responsive element of the L-ferritin gene.
Arosio
C
C
Fossati
L
L
Viganò
M
M
Trombini
P
P
Cazzaniga
G
G
Piperno
A
A
D000328:Adult; D002386:Cataract / Q000097:blood* / Q000235:genetics*; D005192:Family Health; D005293:Ferritins / Q000097:blood* / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000378:metabolism*; D019189:Iron Metabolism Disorders / Q000235:genetics*; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D013577:Syndrome
D005293:Ferritins; D007501:Iron