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Identification of TMPRSS6 cleavage sites of hemojuvelin.
Rausa M, Ghitti M, Pagani A, Nai A, Campanella A, Musco G, Camaschella C, Silvestri L. Rausa M, et al. J Cell Mol Med. 2015 Apr;19(4):879-88. doi: 10.1111/jcmm.12462. Epub 2015 Feb 22. J Cell Mol Med. 2015. PMID: 25704252 Free PMC article.
Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies.
De Falco L, Silvestri L, Kannengiesser C, Morán E, Oudin C, Rausa M, Bruno M, Aranda J, Argiles B, Yenicesu I, Falcon-Rodriguez M, Yilmaz-Keskin E, Kocak U, Beaumont C, Camaschella C, Iolascon A, Grandchamp B, Sanchez M. De Falco L, et al. Among authors: rausa m. Hum Mutat. 2014 Nov;35(11):1321-9. doi: 10.1002/humu.22632. Epub 2014 Sep 10. Hum Mutat. 2014. PMID: 25156943
How to assess causality of TMPRSS6 mutations?
Silvestri L, Rausa M, Pagani A, Nai A, Camaschella C. Silvestri L, et al. Among authors: rausa m. Hum Mutat. 2013 Jul;34(7):1043-5. doi: 10.1002/humu.22321. Epub 2013 Apr 17. Hum Mutat. 2013. PMID: 23554218 No abstract available.
Transferrin receptor 2 mutations in patients with juvenile hemochromatosis phenotype.
Ravasi G, Rausa M, Pelucchi S, Arosio C, Greni F, Mariani R, Pelloni I, Silvestri L, Pineda P, Camaschella C, Piperno A. Ravasi G, et al. Among authors: rausa m. Am J Hematol. 2015 Dec;90(12):E226-7. doi: 10.1002/ajh.24202. Epub 2015 Nov 17. Am J Hematol. 2015. PMID: 26408288 Free article. No abstract available.
16 results