Molecular analysis of hereditary hyperferritinemia-cataract syndrome in a large Basque family

Journal of Pediatric Endocrinology and Metabolism

Volumn 14, Issue 3, 2001, Pages 295-300

  Perez de Nanclares, G ^a   Castano L ^a   Martul, P ^a   Rica, I ^a   Vela, A ^a   Sanjurjo, P ^a   Aldamiz Echevarria K ^a   Martinez, R ^a   Sarrionandia, M J ^a  

^a HOSPITAL DE CRUCES   (Spain)

Author keywords

Ferritin; Hemochromatosis; Hereditary hyperferritinemia cataract syndrome; Iron regulatory element; Iron regulatory proteins

Indexed keywords

ADENINE; FERRITIN; GUANINE; PROTEIN SUBUNIT; REGULATOR PROTEIN;

5' UNTRANSLATED REGION; ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD LEVEL; CATARACT; CATARACTOGENESIS; CHILD; CHROMOSOME 19Q; CLINICAL ARTICLE; FAMILY; FEMALE; GENE EXPRESSION; GENE MUTATION; GERM LINE; HUMAN; HYPERFERRITINEMIA; IRON OVERLOAD; LENS; MALE; PEDIGREE; RELATIVE; SEQUENCE ANALYSIS; SYNDROME;

EID: 0035090726     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2001.14.3.295     Document Type: Article

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