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

Volumn 8, Issue 1, 2013, Pages

  Luscieti, Sara ^a   Tolle, Gabriele ^b,c   Aranda, Jessica ^a   Campos, Carmen Benet ^d   Risse, Frank ^e   Morán, Érica ^a   Muckenthaler, Martina U ^b,c   Sánchez, Mayka ^a  

^a Institute of Predictive and Personalized Medicine of Cancer IMPPC   (Spain)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^d HOSPITAL ARNAU DE VILANOVA   (Spain)

^e Praxis für Hämatologie Onkologie Rhein Ahr   (Germany)

Author keywords

Bilateral cataracts; Iron metabolism; IRP IRE regulatory system; Serum ferritin

Indexed keywords

C REACTIVE PROTEIN; FERRITIN; GENOMIC DNA; IRON; IRON REGULATORY FACTOR; IRON REGULATORY PROTEIN 1; IRON REGULATORY PROTEIN 2; L FERRITIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BINDING AFFINITY; CATARACT; CATARACT EXTRACTION; CLINICAL ARTICLE; CLINICAL FEATURE; DNA SEQUENCE; ECHOGRAPHY; EXON; FEMALE; FERRITIN BLOOD LEVEL; GEL MOBILITY SHIFT ASSAY; GENE DELETION; GENE MUTATION; GENETIC DISORDER; HEMOCHROMATOSIS; HEREDITARY HYPERFERRITINEMIA CATARACT SYNDROME; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERFERRITINEMIA; IRON BLOOD LEVEL; IRON METABOLISM; IRON RESPONSIVE ELEMENT; LIVER FUNCTION TEST; POINT MUTATION; PROTEIN BINDING; PROTEIN EXPRESSION; PROTEIN STRUCTURE;

5' UNTRANSLATED REGIONS; ADULT; APOFERRITINS; CATARACT; ELECTROPHORETIC MOBILITY SHIFT ASSAY; FEMALE; HUMANS; IRON METABOLISM DISORDERS; IRON-REGULATORY PROTEINS; MALE; MIDDLE AGED; MUTATION; NUCLEIC ACID CONFORMATION; PEDIGREE; PLASMIDS; POLYMERASE CHAIN REACTION; PROTEIN BINDING; RNA; YOUNG ADULT;

EID: 84873977720     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-30     Document Type: Article

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