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Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes

โœ Scribed by Antonello Pietrangelo; Angela Caleffi; Jean Henrion; Francesca Ferrara; Elena Corradini; Hasan Kulaksiz; Wolfgang Stremmel; Pietro Andreone; Cinzia Garuti


Book ID
119758282
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
466 KB
Volume
128
Category
Article
ISSN
0016-5085

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Mutation analysis of the HFE gene associ
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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