Genetic screening for HFE hemochromatosis in 6,020 Danish men: penetrance of C282Y, H63D, and S65C variants
Author:
Publisher
Springer Science and Business Media LLC
Subject
Hematology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00277-008-0679-1.pdf
Reference33 articles.
1. Milman N, Pedersen P, Steig T, Byg K-E, Graudal N, Fenger K (2001) Clinically overt hereditary hemochromatosis in Denmark 1948–1985: epidemiology, factors of significance for long-term survival, and causes of death in 179 patients. Ann Hematol 80:737–744 doi: 10.1007/s002770100371
2. Milman N, Pedersen P (2003) Evidence that the Cys282Tyr mutation of the HFE gene originated from a population in Southern Scandinavia and spread with the Vikings. Clin Genet 64:36–47 doi: 10.1034/j.1399-0004.2003.00083.x
3. Milman N (2000) Inheritance of hemochromatosis: family studies. In: Barton JC, Edwards CQ (eds) Hemochromatosis. Genetics, pathophysiology, diagnosis and treatment. Cambrigde University Press, Cambrigde, pp 15–41 ISBN 0 521 593808
4. Burt MJ, George PM, Upton JD, Collett JA, Frampton CM, Chapman TM, Walmsley TA, Chapman BA (1998) The significance of haemochromatosis gene mutations in the general population: implications for screening. Gut 43:830–836
5. Olynyk JK, Cullen DJ, Aquilia S, Rossi E, Summerville L, Powell LW (1999) A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med 341:718–724 doi: 10.1056/NEJM199909023411002
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