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The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis.
Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA 92037, USA. beutler@scripps.edu
PMID: 12707220 [PubMed - indexed for MEDLINE]
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Cited by 4 PubMed Central articles
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Structure of the membrane proximal oxidoreductase domain of human Steap3, the dominant ferrireductase of the erythroid transferrin cycle.
Sendamarai AK, Ohgami RS, Fleming MD, Lawrence CM.
Proc Natl Acad Sci U S A. 2008 May 27; 105(21):7410-5. Epub 2008 May 21.
[Proc Natl Acad Sci U S A. 2008]
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Clinical Penetrance of C282Y Homozygous HFE Haemochromatosis.
Rossi E, Jeffrey GP.
Clin Biochem Rev. 2004 Aug; 25(3):183-90.
[Clin Biochem Rev. 2004]
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Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients.
McCune CA, Ravine D, Carter K, Jackson HA, Hutton D, Hedderich J, Krawczak M, Worwood M.
Gut. 2006 Apr; 55(4):554-62. Epub 2005 Sep 20.
[Gut. 2006]
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