Simultaneous detection of the C282Y, H63D and S65C mutations in ... www.scielo.br › bjmbr
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28 thg 1, 2010 · The HFE gene, together with other biologically active compounds, regulates the intestinal absorption of iron [1, 2]. There have been three ... Background · Methods · Results · Discussion
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Mutations in the HFE gene result in iron overload and can produce hereditary hemochromatosis (HH), a disorder of iron metabolism characterized by increased ...
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23 thg 11, 2007 · Hereditary hemochromatosis (HH) is a common genetic disease characterized by excessive iron overload that leads to multi-organ failure. Although ...
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Three recurrent disease-associated mutations have been detected in the hemochromatosis gene (HFE ): C282Y, H63D, and. S65C. Although HH phenotype has been ...
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15 thg 6, 2007 · No C282Y, S65C mutations, and H63D homozygote was observed, while the genotype frequency of H63D heterozygote was 4.6% and the allelic frequency ...
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8 thg 7, 2011 · Allelic frequency for C282Y, H63D and S65C mutations were 22%, 16% and 2%, respectively. We report here a high-throughput, accurate and robust ...
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Genvinset HFE C282Y, H63D and S65C ... Hereditary hemochromatosis (HH) is an autosomal recessive inherited disorder of iron metabolism caused by HFE gene ...
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5 thg 7, 2022 · In the present study, we performed a mutation analysis to determine the frequencies of the HFE gene mutations (C282Y, H63D, and S65C) in DNA ...
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The C282Y mutation is well defined in hemochromatosis etiology. Two other mutations have been described, H63D and S65C, associated with a milder form of the ...
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1 thg 9, 2007 · Approximately 90% of affected individuals are homozygous for the C282Y mutation, but the H63D and S65C mutations are also of interest.
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loading. Screening for S65C may be useful in individuals with iron overload who are not homozygous for C282Y or compound heterozygous for C282Y/H63D.
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6 thg 7, 2004 · Most cases are homozygous for the C282Y mutation in the HFE gene; a few are C282Y heterozygous, compound C282Y/H63D heterozygous, ...
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30 thg 9, 2013 · Frequency of C282Y, H63D, S65C Hereditary Hemochromatosis Gene Mutations in. Syrian Population and Their Association with Serum Iron ...
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