A point mutation in the bulge of the iron-responsive element of the L ferritin gene in two families with the hereditary hyperferritinemia-cataract syndrome

Blood

Volumn 91, Issue 1, 1998, Pages 319-323

  Martin, M E ^b   Fargion, S ^b   Brissot, P ^b   Pellat, B ^b   Beaumont, C ^a  

^a INSERM   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FERRITIN; HEMOGLOBIN; IRON; NUCLEOTIDE; PROTEIN; TRANSFERRIN;

ADOLESCENT; ADULT; AGED; ANEMIA; ARTICLE; BINDING AFFINITY; CATARACT; CHROMOSOME 19Q; CLINICAL ARTICLE; FAMILY STUDY; FEMALE; FERRITIN BLOOD LEVEL; GENE; GENETIC DISORDER; HUMAN; HYPERFERRITINEMIA; IRON RESPONSIVE ELEMENT; MALE; PEDIGREE; PHLEBOTOMY; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN BINDING;

EID: 0031975341     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v91.1.319.319_319_323     Document Type: Article

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