HFE H63D gene mutation - Wikipedia en.wikipedia.org › wiki › HFE_H63D_gene_mutation
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The H63D HFE mutation is a histidine-to-aspartic acid substitution at amino acid position 63. It has also been associated with hemochromatosis, but to a lesser ... Abstract · METHODS · RESULTS
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The H63D mutation of the HFE gene has been considered to be a minor mutation because it does not show the same defect in cellular trafficking (2) and most ...
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6 thg 12, 2014 · Hereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by excessive intestinal absorption of dietary iron, ...
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The H63D mutation is valuable not only because compound heterozygotes must be regarded as “at risk for iron accumulation”1-6 but also because the test provides ...
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4 thg 2, 2022 · If you are “H63d homozygous” it means that you have inherited 2 copies of the milder H63D variant, one from each of your biological parents.
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The H63D allele frequency has been reported to be as high as 30% in the Basque population of Spain (11). The H63D mutation seems to have evolutionarily predated ...
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Although the H63D residue is a nonconserved residue in other MHC class I proteins and in the human Fc receptor, the H63D mutation is located near the area of ...
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12 thg 11, 2018 · HFE H63D, a common variant among individuals of Northern European descent, increases the risk for hypertension and, given its frequency, likely ...
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3 thg 5, 2021 · H63D syndrome is a unique phenotype (clinical picture) of a homozygous mutation of the HFE gene H63D, which is otherwise known to cause at ...
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9 thg 7, 2020 · H63D mutations may lead to iron overload in the setting of another risk factor, such as beta-thalassemia trait [6] or hepatitis C [7]. While the ...
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In particular, it has been proposed that H63D mutations predominantly affect the binding of HFE to the transferrin receptor, which plays a role in neuronal iron ...
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H63D homozygotes with hyperferritinemia: is the genotype the primary cause of iron overload. Eur J Hematol, 78 (2006), pp. 66-71. [6]. P ...
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9 thg 5, 2017 · H63D is most famous for being involved in something called hereditary hemochromatosis. Basically people with this disease have too much iron in ...
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6 thg 12, 2017 · Seven of them are carriers of H63D mutation in the HFE gene and six were wild type. Fitness levels were assessed using the cardiopulmonary ...
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