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Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5'-UTR of the HAMP gene

✍ Scribed by Matthes, T.


Book ID
118234982
Publisher
American Society of Hematology
Year
2004
Tongue
English
Weight
209 KB
Volume
104
Category
Article
ISSN
0006-4971

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Mutation analysis of the HFE gene associ
✍ Monaghan, Kristin G.; Rybicki, Benjamin A.; Shurafa, Muhammad; Feldman, Gerald L πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 155 KB πŸ‘ 2 views

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