Genetic haemochromatosis: Genes and mutations associated with iron loading

Best Practice and Research: Clinical Haematology

Volumn 15, Issue 2, 2002, Pages 261-276

  Camaschella, Clara ^a   Roetto, Antonella ^a   De Gobbi, Marco ^a  

^a UNIVERSITY OF TURIN   (Italy)

Author keywords

Haemochromatosis; Iron; Iron overload; Mutations

Indexed keywords

IRON; TRANSFERRIN RECEPTOR; BETA 2 MICROGLOBULIN; FERROPORTIN 1; HFE PROTEIN; NATURAL RESISTANCE ASSOCIATED MACROPHAGE PROTEIN 2; PROTEIN TRANSFERRIN RECEPTOR 2; UNCLASSIFIED DRUG; CATION TRANSPORT PROTEIN; HFE PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; MEMBRANE PROTEIN; METAL TRANSPORTING PROTEIN 1; TFR2 PROTEIN, HUMAN;

AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CAUCASIAN; CHROMOSOME 1Q; CHROMOSOME 2Q; CHROMOSOME 7Q; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DISEASE SEVERITY; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC DISORDER; GENOTYPE; HEMOCHROMATOSIS; HOMOZYGOSITY; HUMAN; IRON BALANCE; IRON INTAKE; IRON OVERLOAD; NONHUMAN; ONSET AGE; PRIORITY JOURNAL; REVIEW; AFRICAN IRON OVERLOAD; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BINDING AFFINITY; CELLULAR DISTRIBUTION; GENE LOCATION; GENETIC SUSCEPTIBILITY; GENOTYPE PHENOTYPE CORRELATION; HEREDITY; IMMUNOHISTOCHEMISTRY; INTESTINE CELL; IRON ABSORPTION; IRON METABOLISM; JUVENILE HEMOCHROMATOSIS; MISSENSE MUTATION; NEONATAL HEMOCHROMATOSIS; NONSENSE MUTATION; PHLEBOTOMY; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; WESTERN BLOTTING; CLASSIFICATION; GENETICS; METABOLISM; MUTATION;

CATION TRANSPORT PROTEINS; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; IRON; IRON OVERLOAD; MEMBRANE PROTEINS; MUTATION; RECEPTORS, TRANSFERRIN;

EID: 0036431779     PISSN: 15216926     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1521-6926(02)90207-0     Document Type: Review

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