Zobrazeno 1 - 1
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pro vyhledávání: '"Dennis G. Van Vuurden"'
Autor:
Aurora Feliu, Milen Minkov, Natascia Campostrini, Clara Camaschella, Fahd Al Manjomi, Laura Silvestri, Francesca Totaro, Luigia De Falco, Alessia Pagani, Carlo Dufour, Achille Iolascon, Dennis G. Van Vuurden, Domenico Girelli, Antonis Kattamis, Carmelo Piscopo, Antonella Nai
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2010, 31 (5), ⟨10.1002/humu.21243⟩
De Falco, L, Totaro, F, Nai, A, Pagani, A, Girelli, D, Silvestri, L, Piscopo, C, Campostrini, N, Dufour, C, Manjomi, F A L, Minkov, M, van Vuurden, D G, Feliu, A, Kattamis, A, Camaschella, C & Iolascon, A 2010, ' Novel TMPRSS6 Mutations Associated with Iron-refractory Iron Deficiency Anemia (IRIDA) ', Human Mutation, vol. 31, no. 5, pp. E1390 . https://doi.org/10.1002/humu.21243
Human Mutation, 31(5). Wiley-Liss Inc.
Human Mutation, Wiley, 2010, 31 (5), ⟨10.1002/humu.21243⟩
De Falco, L, Totaro, F, Nai, A, Pagani, A, Girelli, D, Silvestri, L, Piscopo, C, Campostrini, N, Dufour, C, Manjomi, F A L, Minkov, M, van Vuurden, D G, Feliu, A, Kattamis, A, Camaschella, C & Iolascon, A 2010, ' Novel TMPRSS6 Mutations Associated with Iron-refractory Iron Deficiency Anemia (IRIDA) ', Human Mutation, vol. 31, no. 5, pp. E1390 . https://doi.org/10.1002/humu.21243
Human Mutation, 31(5). Wiley-Liss Inc.
International audience; 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