Browsing by Subject "Mutacions"
Now showing items 1-5 of 5
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Functional characterization of a novel non-coding mutation “Ghent +49A > G” in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome
(Scientific Reports, 2017)Hereditary hyperferritinaemia-cataract syndrome (HHCS) is a rare disorder usually caused by heterozygous mutations in the iron-responsive element (IRE) in the 5′ untranslated region (5′UTR) of the ... -
Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3
(Molecular Genetics & Genomic Medicine, 2015)Hereditary hemochromatosis (HH) type 3 is an autosomal recessive disorder of iron metabolism characterized by excessive iron deposition in the liver and caused by mutations in the transferrin receptor ... -
New cases and mutations in SEC23B gene causing congenital dyserythropoietic anemia type II
(International Journal of Molecular Sciences, 2023)Congenital dyserythropoietic anemia type II (CDA II) is an inherited autosomal recessive blood disorder which belongs to the wide group of ineffective erythropoiesis conditions. It is characterized by ... -
New mutations in HFE2 and TFR2 genes causing non HFE-related hereditary hemochromatosis
(Genes, 2021)Hereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive iron deposition in parenchymal organs such as liver, heart, pancreas, and joints. It is caused by ... -
Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome
(Orphanet Journal of Rare Diseases, 2013)Background: Hereditary Hyperferritinaemia Cataract Syndrome (HHCS) is a rare autosomal dominant disease characterized by increased serum ferritin levels and early onset of bilateral cataract. The disease ...