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Hemochromatosis type 3

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Hemochromatosis type 3" returned 0 free, full-text review articles. First 0 results:
No publications were found for this category.
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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Hemochromatosis type 3" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Hemochromatosis type 3" returned 4 free, full-text research articles. First few results:
Expression of hepcidin and other iron-related genes in type 3 hemochromatosis due to a novel mutation in transferrin receptor-2.
Last Updated: Nov 13, 2018

Transferrin receptor-2 (TFR2) regulates hepatic hepcidin secretion and when mutated causes type-3 hemochromatosis. No functional study is available in humans. We studied a 47 year-old woman with hemochromatosis. TFR2 DNA and its hepatic transcript were directly sequenced. Hepatic ...

Defective trafficking and localization of mutated transferrin receptor 2: implications for type 3 hereditary hemochromatosis.
Last Updated: Nov 21, 2013

Transferrin receptor 2 (TfR2), a homologue of transferrin receptor 1 (TfR1), is a key molecule involved in the regulation of iron homeostasis. Mutations in TfR2 result in iron overload with similar features to HFE-associated hereditary hemochromatosis. The precise role of TfR2 in ...

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