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Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD).
Gentsch M, Kaczmarczyk A, van Leeuwen K, de Boer M, Kaus-Drobek M, Dagher MC, Kaiser P, Arkwright PD, Gahr M, Rösen-Wolff A, Bochtler M, Secord E, Britto-Williams P, Saifi GM, Maddalena A, Dbaibo G, Bustamante J, Casanova JL, Roos D, Roesler J. Gentsch M, et al. Among authors: bochtler m. Hum Mutat. 2010 Feb;31(2):151-8. doi: 10.1002/humu.21156. Hum Mutat. 2010. PMID: 19953534 Free article.
Amyloid-associated nucleic acid hybridisation.
Braun S, Humphreys C, Fraser E, Brancale A, Bochtler M, Dale TC. Braun S, et al. Among authors: bochtler m. PLoS One. 2011;6(5):e19125. doi: 10.1371/journal.pone.0019125. Epub 2011 May 19. PLoS One. 2011. PMID: 21625537 Free PMC article.
Importance of single molecular determinants in the fidelity of expanded genetic codes.
Antonczak AK, Simova Z, Yonemoto IT, Bochtler M, Piasecka A, Czapinska H, Brancale A, Tippmann EM. Antonczak AK, et al. Among authors: bochtler m. Proc Natl Acad Sci U S A. 2011 Jan 25;108(4):1320-5. doi: 10.1073/pnas.1012276108. Epub 2011 Jan 11. Proc Natl Acad Sci U S A. 2011. PMID: 21224416 Free PMC article.
Structural basis of the methylation specificity of R.DpnI.
Mierzejewska K, Siwek W, Czapinska H, Kaus-Drobek M, Radlinska M, Skowronek K, Bujnicki JM, Dadlez M, Bochtler M. Mierzejewska K, et al. Among authors: bochtler m. Nucleic Acids Res. 2014 Jul;42(13):8745-54. doi: 10.1093/nar/gku546. Epub 2014 Jun 25. Nucleic Acids Res. 2014. PMID: 24966351 Free PMC article.
105 results