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Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update).
Roos D, van Leeuwen K, Hsu AP, Priel DL, Begtrup A, Brandon R, Rawat A, Vignesh P, Madkaikar M, Stasia MJ, Bakri FG, de Boer M, Roesler J, Köker N, Köker MY, Jakobsen M, Bustamante J, Garcia-Morato MB, Shephard JLV, Cagdas D, Tezcan I, Sherkat R, Mortaz E, Fayezi A, Shahrooei M, Wolach B, Blancas-Galicia L, Kanegane H, Kawai T, Condino-Neto A, Vihinen M, Zerbe CS, Holland SM, Malech HL, Gallin JI, Kuhns DB. Roos D, et al. Among authors: jakobsen m. Blood Cells Mol Dis. 2021 Dec;92:102596. doi: 10.1016/j.bcmd.2021.102596. Epub 2021 Jul 28. Blood Cells Mol Dis. 2021. PMID: 34547651
Immunodeficiency associated with a nonsense mutation of IKBKB.
Nielsen C, Jakobsen MA, Larsen MJ, Müller AC, Hansen S, Lillevang ST, Fisker N, Barington T. Nielsen C, et al. J Clin Immunol. 2014 Nov;34(8):916-21. doi: 10.1007/s10875-014-0097-1. Epub 2014 Sep 14. J Clin Immunol. 2014. PMID: 25216719
Microchimerism of male origin in a cohort of Danish girls.
Müller AC, Jakobsen MA, Barington T, Vaag AA, Grunnet LG, Olsen SF, Kamper-Jørgensen M. Müller AC, et al. Among authors: jakobsen ma. Chimerism. 2015 Oct 2;6(4):65-71. doi: 10.1080/19381956.2016.1218583. Epub 2016 Aug 11. Chimerism. 2015. PMID: 27623703 Free PMC article.
732 results