Description of a new mutation in the L-ferrin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family.
Balas
A
A
Aviles
M J
MJ
Garcia-Sanchez
F
F
Vicario
J L
JL
D000328:Adult; D000368:Aged; D001052:Apoferritins; D002386:Cataract / Q000097:blood / Q000150:complications / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005293:Ferritins / Q000097:blood / Q000235:genetics*; D006801:Humans; D007223:Infant; D019189:Iron Metabolism Disorders / Q000097:blood / Q000150:complications / Q000235:genetics*; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D013577:Syndrome
D005293:Ferritins; D001052:Apoferritins