Hyperferritinemia-cataract syndrome associated to HFE gen mutation. Two new Spanish families and a new mutation (A37T: «Zaragoza»);Hiperferritinemia familiar y cataratas congénitas asociadas a mutación del gen HFE. Dos nuevas familias españolas y una nueva mutación (A37T: «Zaragoza»)

Medicina Clinica

Volumn 127, Issue 2, 2006, Pages 55-58

  García Erce, José Antonio ^a   Cortés, Teresa ^a   Cremonesi, Laura ^b   Cazzola, Mario ^c   Pérez Lungmus, Gonzalo ^a   Giralt, Manuel ^a  

^a HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^b SAN RAFFAELE HOSPITAL   (Italy)

^c FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

Congenital cataracts; Hemochromatosis; Hereditary hyperferritinemia cataract syndrome; Hyperferritinemia; L ferritin

Indexed keywords

FERRITIN; HFE PROTEIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CATARACT; CHROMOSOME 19; CONTROLLED STUDY; FERRITIN BLOOD LEVEL; GENE MUTATION; GENE SEQUENCE; HEMOCHROMATOSIS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HYPERFERRITINEMIA; HYPERFERRITINEMIA CATARACT SYNDROME; IRON METABOLISM; IRON OVERLOAD; SEROLOGY; SPAIN;

EID: 33746118764     PISSN: 00257753     EISSN: None     Source Type: Journal    
DOI: 10.1157/13089990     Document Type: Article

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