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A novel N491S mutation in the human SLC11A2 gene impairs protein trafficking and in association with the G212V mutation leads to microcytic anemia and liver iron overload.
Bardou-Jacquet E, Island ML, Jouanolle AM, Détivaud L, Fatih N, Ropert M, Brissot E, Mosser A, Maisonneuve H, Brissot P, Loréal O. Bardou-Jacquet E, et al. Among authors: fatih n. Blood Cells Mol Dis. 2011 Dec 15;47(4):243-8. doi: 10.1016/j.bcmd.2011.07.004. Epub 2011 Aug 26. Blood Cells Mol Dis. 2011. PMID: 21871825
[Iron metabolism].
Loréal O, Troadec MB, Camberlein E, Fatih N, Ropert M, Brissot P. Loréal O, et al. Among authors: fatih n. Rev Prat. 2006 Dec 15;56(19):2111-7. Rev Prat. 2006. PMID: 17416047 French.
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