Development of a uniform, very aggressive disease phenotype in all homozygous carriers of the NOD2 mutation p.Leu1007fsX1008 with Crohn's disease and active smoking status resulting in ileal stenosis requiring surgery
所有携带NOD2基因p.Leu1007fsX1008纯合突变且患有克罗恩病并有吸烟史的患者,均表现出一致且极具侵袭性的疾病表型,最终导致回肠狭窄,需要手术治疗。
期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0236421
Schnitzler, Fabian; Friedrich, Matthias; Angelberger, Marianne; Diegelmann, Julia; Stallhofer, Johannes; Wolf, Christiane; Dütschler, Joel; Truniger, Samuel; Olszak, Torsten; Beigel, Florian; Tillack, Cornelia; Lohse, Peter; Brand, Stephan