Hyperferritinaemia–cataract syndrome: Worldwide mutations and phenotype of an increasingly diagnosed genetic disorder

Human Genomics

Volumn 4, Issue 4, 2010, Pages 250-262

  Millonig, Gunda ^a   Muckenthaler, Martina U ^a   Mueller, Sebastian ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Cataract; Eye lens; Ferritin; Genetic; Hyperferritinaemia; Iron overload

Indexed keywords

FERRITIN;

BIOLOGICAL MODEL; CATARACT; CONFORMATION; GENETIC PREDISPOSITION; GENETICS; HUMAN; IRON METABOLISM DISORDER; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; REVIEW; SYNDROME;

BASE SEQUENCE; CATARACT; FERRITINS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IRON METABOLISM DISORDERS; MODELS, BIOLOGICAL; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEIC ACID CONFORMATION; PHENOTYPE; SYNDROME;

MLCS; MLOWN;

EID: 85027942773     PISSN: 14739542     EISSN: 14797364     Source Type: Journal    
DOI: 10.1186/1479-7364-4-4-250     Document Type: Review

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