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Published byHelen French Modified over 6 years ago
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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, 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
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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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