Hereditary hemochromatosis: Is the gene race over?
نویسندگان
چکیده
منابع مشابه
Hereditary hemochromatosis: an opportunity for gene therapy.
Levels of body iron should be tightly controlled to prevent the formation of oxygen radicals, lipoperoxidation, genotoxicity, and the production of cytotoxic cytokines, which result in damage to a number of organs. Enterocytes in the intestinal villae are involved in the apical uptake of iron from the intestinal lumen: iron is further exported from the cells into the circulation. The apical div...
متن کاملHereditary hemochromatosis.
Hereditary hemochromatosis is definitively diagnosed based on liver biopsy findings.
متن کاملHereditary hemochromatosis.
Hereditary hemochromatosis is an autosomal recessive disorder that disrupts the body's regulation of iron. It is the most common genetic disease in whites. Men have a 24-fold increased rate of iron-overload disease compared with women. Persons who are homozygous for the HFE gene mutation C282Y comprise 85 to 90 percent of phenotypically affected persons. End-organ damage or clinical manifestati...
متن کاملHereditary hemochromatosis
of terms of the Creative Commons Attribution Non-Commercial License which permits unrestricted noncommercial use, distribution, and reproduction in any medium provided article is properly cited. a Department of Pathology and Laboratory Medicine David Geffen School of Medicine University of California, Los Angeles/CA USA. b Department of Pathology and Laboratory Medicine Weill Cornell Medical Co...
متن کاملThe cloning of the gene for hereditary hemochromatosis.
Featured Article: Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996;13: 399 – 408. The early 1990s represented the beginning of modern-day human genomics. Methodologies for genetic linkage analysis of human disease genes had become well established, and a new class of poly...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2004
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5201176