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Titolo:
The haemochromatosis gene: A global perspective and implications for the Asia-Pacific region
Autore:
Mortimore, M; Merryweather-Clarke, AT; Robson, KJH; Powell, LW;
Indirizzi:
Queensland Inst Med Res, Clin Sci Unit, Brisbane, Qld 4029, Australia Queensland Inst Med Res Brisbane Qld Australia 4029 , Qld 4029, Australia Inst Mol Med, MRC, Mol Haematol Unit, Oxford, England Inst Mol Med Oxford England ed, MRC, Mol Haematol Unit, Oxford, England
Titolo Testata:
JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY
fascicolo: 9, volume: 14, anno: 1999,
pagine: 838 - 843
SICI:
0815-9319(199909)14:9<838:THGAGP>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
PORPHYRIA-CUTANEA-TARDA; BETA-2-MICROGLOBULIN KNOCKOUT MICE; HLA-LINKED HEMOCHROMATOSIS; CELL-SURFACE EXPRESSION; HEREDITARY HEMOCHROMATOSIS; TRANSFERRIN RECEPTOR; CYS282TYR MUTATION; IRON OVERLOAD; C282Y MUTATION; H63D MUTATIONS;
Keywords:
genetics; haemochromatosis; HFE; iron overload; metabolism;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
59
Recensione:
Indirizzi per estratti:
Indirizzo: Powell, LW Queensland Inst Med Res, Clin Sci Unit, 300 Herston Rd, Brisbane, Qld 4029, Australia Queensland Inst Med Res 300 Herston Rd Brisbane Qld Australia 4029
Citazione:
M. Mortimore et al., "The haemochromatosis gene: A global perspective and implications for the Asia-Pacific region", J GASTR HEP, 14(9), 1999, pp. 838-843

Abstract

Mutations in the haemochromatosis (HFE) gene cause most of the cases of hereditary haemochromatosis among people of Northern European ancestry while remaining a rare cause of iron overload among indigenous persons of the Asia-Pacific region. Advances in understanding of the role of the HFE protein product and other recently cloned iron transporters signify an exciting period, as previously unknown components of the iron metabolism pathway are revealed one by one. Epidemiological studies have shown that this gene is more widespread than its phenotypic expression would suggest and that the heterozygous state may be implicated in the expression of other diseases of theliver such as porphyria cutanea tarda, hepatitis C virus infection and non-alcoholic steatohepatitis. The diagnosis, management and ethical implications for clinical practice in the aftermath of this discovery are discussed. (C) 1999 Blackwell Science Asia Pty Ltd.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/07/20 alle ore 22:29:24