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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome

Figure 2

(A) Schematic representation of the canonical structure of FTL IRE depicting important structural parts: the hexanucleotide apical loop, the cytosine bulge and the upper and lower stems. (B) Picture of the FTL IRE indicating all known causative point mutations in HHCS. The two new mutations described here (Badalona +36C > U and Heidelberg +52 G > C) are boxed. (C) Picture of FTL IRE showing the known deletions causing HHCS.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172