A family with hereditary hyperferritinaemia cataract syndrome: Evidence of incomplete penetrance and clinical heterogeneity

British Journal of Haematology

Volumn 143, Issue 4, 2008, Pages 596-598

  Gonzalez Huerta, Luz ^a   Ramirez Sanchez, Veronica ^a   Rivera Vega, Maria ^a   Messina Baas, Olga ^a   Cuevas Covarrubias, Sergio ^a  

^a UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

Author keywords

Cataract; Ferritin; FTL gene; Hyperferritinaemia; Iron regulatory element region

Indexed keywords

ADENINE; CYTOSINE; FERRITIN; MESSENGER RNA;

AUTOSOMAL DOMINANT DISORDER; BASE MISPAIRING; CATARACT; CLINICAL FEATURE; CONFORMATION; DNA DETERMINATION; DNA SEQUENCE; GENE MUTATION; GENETIC HETEROGENEITY; HEREDITARY HYPERFERRITINAEMIA CATARACT SYNDROME; HUMAN; HYPERFERRITINEMIA; LETTER; PRIORITY JOURNAL;

ADULT; BASE SEQUENCE; CATARACT; CHILD; FEMALE; FERRITINS; HUMANS; INFANT; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; SYNDROME; YOUNG ADULT;

EID: 54849431403     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2008.07345.x     Document Type: Letter

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