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Congenital spherocytosis with hereditary hemochromatosis without pathogenic mutations in the HFE gene

✍ Scribed by Malika Ichiche; Patrick Lacor; Anita Hoorens; Jan Vanden Brande; Hanny Brussaard; Danny Vanstraelen


Book ID
116431331
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
67 KB
Volume
15
Category
Article
ISSN
0953-6205

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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