A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome [1]

Blood

Volumn 88, Issue 5, 1996, Pages 1895-

  Aguilar Martinez, P ^a   Biron, C ^a   Masmejean, C ^a   Jeanjean, P ^a   Schved, J F ^a  

^a HÔPITAL SAINT ELOI   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN;

AMINO ACID SUBSTITUTION; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CONGENITAL CATARACT; DNA DETERMINATION; FERRITIN BLOOD LEVEL; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; HUMAN; HYPERFERRITINEMIA CATARACT SYNDROME; IRON OVERLOAD; IRON RESPONSIVE ELEMENT; LETTER; MALE; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0029819042     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v88.5.1895.bloodjournal8851895     Document Type: Letter

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