Skip to main content
Figure 3 | Human Genomics

Figure 3

From: Hyperferritinaemia-cataract syndrome: Worldwide mutations and phenotype of an increasingly diagnosed genetic disorder

Figure 3

Mutations causing hyperferritinaemia-cataract syndrome (HHCS) in the iron-responsive element (IRE) of L-ferritin. The IRE of L-ferritin forms a hairpin-like structure. Most of the mutations that cause HHCS discovered so far are located in the upper stem and the conserved hexanucleotide of the IRE. Single nucleotide transitions are depicted by grey arrows, and the number of the nucleotide deletions are represented by brackets. An extensive overview of all mutations can be found in Table 2.

Back to article page