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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

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

Figure 1

(A, B) Pedigree trees of the two families with HHCS studied. Squares indicate males, circles females and rhombus subjects of unknown sex. Filled symbols indicate affected members and barred symbols indicate deceased subjects. Asterisks indicate subjects characterized at the molecular level. (C, D) Chromatograms of partial FTL IRE sequences where mutations are located. Arrows indicate the nucleotide position that is altered by the pathological mutation. WT denotes wild type sequence according to reference sequence [NCBI:NM_000146.3]. Traditional and conventional HGVS nomenclatures are shown.

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