Factors influencing disease phenotype and penetrance in HFE haemochromatosis

Human Genetics

Volumn 128, Issue 3, 2010, Pages 233-248

  Rochette, J ^a   Le Gac, G ^b   Lassoued, K ^a   Ferec C ^b   Robson, K J H ^c  

^a INSERM   (France)

^b BREST UNIVERSITY HOSPITAL   (France)

^c UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; BONE MORPHOGENETIC PROTEIN 2; BONE MORPHOGENETIC PROTEIN 6; FERRITIN; FERROPORTIN; HAPTOGLOBIN; HEMOJUVELIN; HEPCIDIN; IRON; MYELOPEROXIDASE; SMAD4 PROTEIN; TRANSFORMING GROWTH FACTOR BETA; TUMOR NECROSIS FACTOR ALPHA; ANTIMICROBIAL CATIONIC PEPTIDE; HAMP PROTEIN, HUMAN; HAMP1 PROTEIN, MOUSE; HFE PROTEIN, HUMAN; HFE PROTEIN, MOUSE; HLA ANTIGEN CLASS 1; MEMBRANE PROTEIN;

AGE; ENVIRONMENTAL FACTOR; GENDER; GENE EXPRESSION; GENE FREQUENCY; GENE INTERACTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HEMOCHROMATOSIS; HUMAN; INTESTINE CELL; IRON BLOOD LEVEL; IRON DEFICIENCY ANEMIA; IRON STORAGE; IRON TRANSPORT; KUPFFER CELL; LIFESTYLE; LIVER CELL; LIVER CIRRHOSIS; MACROPHAGE; NONHUMAN; PATHOPHYSIOLOGY; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN FUNCTION; REVIEW; AMINO ACID SUBSTITUTION; ANIMAL; BIOLOGICAL MODEL; DEFICIENCY; DISEASE MODEL; FEMALE; GENETICS; HOMOZYGOTE; MALE; METABOLISM; MISSENSE MUTATION; MOUSE;

AMINO ACID SUBSTITUTION; ANIMALS; ANTIMICROBIAL CATIONIC PEPTIDES; DISEASE MODELS, ANIMAL; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HOMOZYGOTE; HUMANS; IRON; MALE; MEMBRANE PROTEINS; MICE; MODELS, BIOLOGICAL; MUTATION, MISSENSE; PENETRANCE; PHENOTYPE; HEPCIDINS;

ANIMALIA;

EID: 77956023046     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0852-1     Document Type: Review

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