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Hereditary hyperferritinemia-cataract syndrome: a novel mutation in the iron-responsive element of the L-ferritin gene in a French family  Laurent Garderet,

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Presentation on theme: "Hereditary hyperferritinemia-cataract syndrome: a novel mutation in the iron-responsive element of the L-ferritin gene in a French family  Laurent Garderet,"— Presentation transcript:

1 Hereditary hyperferritinemia-cataract syndrome: a novel mutation in the iron-responsive element of the L-ferritin gene in a French family  Laurent Garderet, MD, Brigitte Hermelin, MD, Norbert Claude Gorin, MD, PhD, Olivier Rosmorduc, MD, PhD  The American Journal of Medicine  Volume 117, Issue 2, Pages (July 2004) DOI: /j.amjmed

2 Figure A. Pedigree of a French family with hyperferritinemia and congenital cataract. Circles denote female family members; squares, male family members. A diagonal line denotes a deceased family member. The arrow indicates the proband. The left-hand side of a symbol indicates the lens status and the right-hand side the serum ferritin level. Blank symbols indicate a normal lens and normal serum ferritin level. C = congenital cataract; F = hyperferritininemia. B. Representation of the L-ferritin iron-responsive element gene showing the new mutation +39 C→G detected in the apical loop. The American Journal of Medicine  , DOI: ( /j.amjmed )


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