A new mutation (G51C) in the iron-responsive element (IRE) of L-ferritin associated with hyperferritinaemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins

British Journal of Haematology

Volumn 108, Issue 3, 2000, Pages 480-482

  Camaschella, Clara ^a   Zecchina, G ^a   Lockitch, G ^b   Roetto, A ^a   Campanella, A ^c   Arosio, P ^d   Levi, S ^c  

^a UNIVERSITY OF TURIN   (Italy)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c SAN RAFFAELE HOSPITAL   (Italy)

^d Università di Torino ^*

Author keywords

Cataract; Ferritin; Iron regulatory proteins; Iron responsive element; Mutations

Indexed keywords

DNA; FERRITIN; IRON; IRON REGULATORY FACTOR; MESSENGER RNA; TRANSFERRIN;

ADOLESCENT; ARTICLE; BINDING AFFINITY; CASE REPORT; CATARACT; FEMALE; HUMAN; HYPERFERRITINEMIA; IRON RESPONSIVE ELEMENT; MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SYNDROME;

ADOLESCENT; ADULT; ANEMIA; CATARACT; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FEMALE; FERRITINS; HUMANS; IRON-REGULATORY PROTEINS; IRON-SULFUR PROTEINS; MALE; MIDDLE AGED; POINT MUTATION; RNA, MESSENGER; RNA-BINDING PROTEINS; SEQUENCE ANALYSIS, DNA; SYNDROME;

EID: 0034117221     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2000.01920.x     Document Type: Article

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