Novel TMPRSS6 mutations associated with
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Luigia De Falco; Francesca Totaro; Antonella Nai; Alessia Pagani; Domenico Girel
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Article
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2010
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John Wiley and Sons
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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