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A study in three European IBD cohorts confirms that the ATG16L1 c.898A>G (p.Thr300Ala) variant is a susceptibility factor for Crohn's disease.
Büning C, Durmus T, Molnar T, de Jong DJ, Drenth JP, Fiedler T, Gentz E, Todorov T, Haas V, Buhner S, Sturm A, Baumgart DC, Nagy F, Lonovics J, Landt O, Kage A, Büning H, Nickel R, Büttner J, Lochs H, Schmidt HH, Witt H. Büning C, et al. Among authors: todorov t. J Crohns Colitis. 2007 Dec;1(2):70-6. doi: 10.1016/j.crohns.2007.08.001. Epub 2007 Sep 27. J Crohns Colitis. 2007. PMID: 21172187
No association of the CARD8 (TUCAN) c.30T>A (p.C10X) variant with Crohn's disease: a study in 3 independent European cohorts.
Büning C, Schmidt HH, Molnár T, Drenth JP, Fiedler T, Gentz E, Todorov T, Baumgart DC, Sturm A, Nagy F, Lonovics J, de Jong DJ, Landt O, Kage A, Nickel R, Büttner J, Lochs H, Witt H. Büning C, et al. Among authors: todorov t. Inflamm Bowel Dis. 2008 Mar;14(3):332-7. doi: 10.1002/ibd.20337. Inflamm Bowel Dis. 2008. PMID: 18092344
Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease.
Panzer M, Viveiros A, Schaefer B, Baumgartner N, Seppi K, Djamshidian A, Todorov T, Griffiths WJH, Schott E, Schuelke M, Eurich D, Stättermayer AF, Bomford A, Foskett P, Vodopiutz J, Stauber R, Pertler E, Morell B, Tilg H, Müller T, Kiechl S, Jimenez-Heredia R, Weiss KH, Hahn SH, Janecke A, Ferenci P, Zoller H. Panzer M, et al. Among authors: todorov t. Hepatol Commun. 2022 Jul;6(7):1611-1619. doi: 10.1002/hep4.1922. Epub 2022 Mar 10. Hepatol Commun. 2022. PMID: 35271763 Free PMC article.
502 results