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Celtic Origin of the C282Y Mutation of Hemochromatosis

✍ Scribed by Gérard Lucotte


Book ID
115589952
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
81 KB
Volume
24
Category
Article
ISSN
1079-9796

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Clinical characteristics of hereditary h
✍ Nicholas J. Shaheen; Bruce R. Bacon; Ian S. Grimm 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 63 KB

Approximately 85% of patients with typical hereditary hemochromatosis (HH) are homozygous for the C282Y mutation (C282Y/C282Y) in the recently identified candidate gene for HH. However, some HH patients are instead homozygous for the wild-type allele (wt/wt) at this locus. These wt/wt patients may r