Penetrance of haemochromatosis [3]

Gut

Volumn 52, Issue 4, 2003, Pages 610-611

  Beutler, E ^a  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTHROPATHY; DISEASE ASSOCIATION; FATIGUE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENE OVEREXPRESSION; GENETIC ANALYSIS; HEMOCHROMATOSIS; HOMOZYGOSITY; HUMAN; IMPOTENCE; LETTER; PHENOTYPE; PRIORITY JOURNAL; SYMPTOMATOLOGY; GENETICS; MUTATION; NOTE; PENETRANCE;

HFE PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; MEMBRANE PROTEIN;

HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; MEMBRANE PROTEINS; MUTATION; PENETRANCE;

EID: 0037378667     PISSN: 00175749     EISSN: None     Source Type: Journal    
DOI: 10.1136/gut.52.4.610     Document Type: Letter

References (7)

1. Beutler E, Felitti VJ, Koziol JA, et al. Penetrance of the 845G6A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002;359:211-18.
2. Phatak PD, Ryan DH, Cappuccio J, et al. Prevalence and penetrance of HFE mutations in 4865 unselected primary care patients. Blood Cells Mol Dis 2002;29:41-7.
3. Asberg A, Hveem K, Kruger O, et al. Persons with screening-detected haemochromatosis: as healthy as the general population? Scand J Gastroenterol 2002;37:719-24.
4. Waalen J, Felitti V, Gelbart T, et al. Prevalence of hemochromatosis-related symptoms in homozygotes for the C282Y mutation of the HFE gene. Mayo Clin Proc 2002;77:522-30.
5. Jackson HA, Carter K, Darke C, et al. HFE mutations, iron deficiency and overload in 10 500 blood donors. Br J Haematol 2001;114:474-84.
6. McDonnell SM, Preston BL, Jewell SA, et al. A survey of 2,851 patients with hemochromatosis: Symptoms and response to treatment. Am J Med 1999;106:619-24.
7. Beutler E. Genetic irony beyond haemochromatosis: Clinical effects of HLA-H mutations. Lancet 1997;349:296-7.