Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome

British Journal of Haematology

Volumn 115, Issue 2, 2001, Pages 334-340

  Girelli, Domenico ^a,f   Bozzini, Claudia ^a   Zecchina, Gabriella ^a   Tinazzi, Elisa ^a   Bosio, Sandra ^b   Piperno, Alberto ^c   Ramenghi, Ugo ^b   Peters, Jutta ^d   Levi, Sonia ^e   Camaschella, Clara ^b   Corrocher, Roberto ^a  

^a UNIVERSITY OF VERONA   (Italy)

^b UNIVERSITY OF TURIN   (Italy)

^c Institute of Biomedical Sciences   (Italy)

^d HUMBOLDT UNIVERSITY   (Germany)

^e SAN RAFFAELE HOSPITAL   (Italy)

^f Policlinico GBRossi ^*  (Italy)

Author keywords

Cataract; Ferritin; Hyperferritinaemia cataract syndrome; Iron responsive element; Lens

Indexed keywords

FERRITIN;

ADOLESCENT; ADULT; AGED; ARTICLE; BIOCHEMISTRY; BIRTH; CATARACT; CATARACT EXTRACTION; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; ENVIRONMENTAL FACTOR; FEMALE; FERRITIN BLOOD LEVEL; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HEREDITY; HUMAN; HYPERFERRITINEMIA; IRON RESPONSIVE ELEMENT; LENS; MAJOR CLINICAL STUDY; MALE; MOLECULAR MECHANICS; PHENOTYPE; PRIORITY JOURNAL; TISSUE LEVEL; VISUAL IMPAIRMENT;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; CATARACT; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; FEMALE; FERRITINS; FOLLOW-UP STUDIES; HUMANS; INFANT, NEWBORN; IRON-REGULATORY PROTEINS; IRON-SULFUR PROTEINS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; RNA-BINDING PROTEINS; SYNDROME;

EID: 0035725363     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2001.03116.x     Document Type: Article

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