A point mutation in the iron-responsive element of the L-ferritin gene in a family with hereditary hyperferritinemia cataract syndrome

Canadian Journal of Gastroenterology

Volumn 19, Issue 4, 2005, Pages 253-255

  Wong, Karen ^a   Barbin, Yousef ^a   Chakrabarti, Subrata ^a   Adams, Paul ^a,b  

^a UNIVERSITY OF WESTERN ONTARIO   (Canada)

^b LONDON HEALTH SCIENCES CENTRE   (Canada)

Author keywords

Cataracts; Hyperferritinemia; Iron responsive element; L ferritin

Indexed keywords

FERRITIN; GENOMIC DNA; GLYCINE; THREONINE;

ADULT; ANEMIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC TEST; DNA EXTRACTION; FAMILIAL DISEASE; FEMALE; FERRITIN BLOOD LEVEL; GENE AMPLIFICATION; GENETIC ANALYSIS; GENETIC DISORDER; HEMOCHROMATOSIS; HEREDITARY HYPERFERRITINEMIA CATARACT SYNDROME; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IRON OVERLOAD; IRON RESPONSIVE ELEMENT; LEUKOCYTE; LIVER BIOPSY; PEDIGREE ANALYSIS; PHLEBOTOMY; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SYMPTOMATOLOGY;

EID: 20344368854     PISSN: 08357900     EISSN: None     Source Type: Journal    
DOI: 10.1155/2005/796963     Document Type: Article

References (13)

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