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Hereditary Hemochromatosis: HFE Mutation Analysis in Greeks Reveals Genetic Heterogeneity

✍ Scribed by George Papanikolaou; Marianna Politou; Evangelos Terpos; Stefanos Fourlemadis; Nikos Sakellaropoulos; Dimitris Loukopoulos


Book ID
115590026
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
42 KB
Volume
26
Category
Article
ISSN
1079-9796

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Homozygosity for the mutation Cys282Tyr in the HFE gene has recently been identified as a cause of hereditary hemochromatosis, a disorder resulting in the inappropriate absorption of iron. Approximately 10% of Caucasians are heterozygous for this mutation; however, the gene frequency in African Amer