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Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)

✍ Scribed by Finberg, Karin E; Heeney, Matthew M; Campagna, Dean R; Aydınok, Yeşim; Pearson, Howard A; Hartman, Kip R; Mayo, Mary M; Samuel, Stewart M; Strouse, John J; Markianos, Kyriacos


Book ID
109914179
Publisher
Nature Publishing Group
Year
2008
Tongue
English
Weight
121 KB
Volume
40
Category
Article
ISSN
1061-4036

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Novel TMPRSS6 mutations associated with
✍ Luigia De Falco; Francesca Totaro; Antonella Nai; Alessia Pagani; Domenico Girel 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 441 KB

Mutations leading to abrogation of matriptase-2 proteolytic activity in humans are associated with an iron-refractory iron deficiency anemia (IRIDA) due to elevated hepcidin levels. In this paper we describe 12 IRIDA patients belonging to 7 unrelated families and identify 10 (9 novel) TMPRSS6 mutati