Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis

Human Molecular Genetics

Volumn 12, Issue 17, 2003, Pages 2241-2247

  Merryweather Clarke, Alison T ^a   Cadet, Estelle ^b   Bomford, Adrian ^c   Capron, Dominique ^b   Viprakasit, Vip ^a,d   Miller, Anne ^e   McHugh, Paddy J ^f   Chapman, Roger W ^g   Pointon, Jennifer J ^a   Wimhurst, Victoria L C ^a   Livesey, Karen J ^a   Tanphaichitr, Voravarn ^d   Rochette, Jacques ^b   Robson, Kathryn J H ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b AMIENS UNIVERSITY HOSPITAL   (France)

^c KING'S COLLEGE LONDON   (United Kingdom)

^d MAHIDOL UNIVERSITY   (Thailand)

^e ST PETER S HOSPITAL   (United Kingdom)

^f KINGSTON HOSPITAL   (United Kingdom)

^g JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HEPCIDIN; HFE PROTEIN; IRON; NUCLEOTIDE; PEPTIDE HORMONE; UNCLASSIFIED DRUG;

ADULT; AGED; ALLELE; ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC IDENTIFICATION; HEMOCHROMATOSIS; HETEROZYGOSITY; HOMEOSTASIS; HOMOZYGOSITY; HUMAN; INHERITANCE; IRON ABSORPTION; IRON OVERLOAD; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL;

ADULT; AGED; AGED, 80 AND OVER; ANTIMICROBIAL CATIONIC PEPTIDES; FEMALE; HEMOCHROMATOSIS; HETEROZYGOTE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HOMOZYGOTE; HUMANS; IRON OVERLOAD; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MULTIFACTORIAL INHERITANCE; MUTATION; PHENOTYPE;

EID: 10744225120     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg225     Document Type: Article

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