Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene

Blood

Volumn 90, Issue 5, 1997, Pages 2084-2088

  Girelli, Domenico ^a   Corrocher, Roberto ^b   Bisceglia, Luigi ^b   Olivieri, Oliviero ^b   Zelante, Leopoldo ^b   Panozzo, Giacomo ^b   Gasparini, Paolo ^b  

^a POLICLINICO BORGO ROMA   (Italy)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN;

ADULT; ARTICLE; BASE PAIRING; CATARACT; CHROMOSOME 19; CLINICAL ARTICLE; DELETION MUTANT; FEMALE; FERRITIN BLOOD LEVEL; GENE AMPLIFICATION; GENETIC DISORDER; GENOTYPE; HUMAN; HYPERFERRITINEMIA CATARACT SYNDROME; IRON OVERLOAD; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; SEQUENCE ANALYSIS; TRANSCRIPTION REGULATION; TRANSLATION REGULATION;

EID: 0030921671     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v90.5.2084     Document Type: Article

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