Compound heterozygous mutations in IL10RA combined with a complement factor properdin mutation in infantile-onset inflammatory bowel disease

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作者： Jung, Eun Suk ^[1] ; Petersen, Britt-Sabina ^[2] ; Mayr, Gabriele ^[3] ; Cheon, Jae Hee ^[4] ; Kang, Yunkoo ^[5] ; Lee, Seok Joo ; Che, Xiumei ; Kim, Won Ho ; Kim, Seung ; Schreiber, Stefan ; Franke, Andre ; Koh, Hong

作者单位： Yonsei Univ, Coll Med, Severance Childrens Hosp, Dept Pediat, 50-1 Yonsei Ro, Seoul 03722, South ^[1] Univ Kiel, Inst Clin Mol Biol, Kiel, Germany ^[2] Yonsei Univ, Coll Med, Severance Childrens Hosp, Dept Pathol, Seoul, South Korea ^[3] Yonsei Univ, Coll Med, Brain Korea PLUS Project Med Sci 21, Seoul, South Korea ^[4] Yonsei Univ, Coll Med, Severance Childrens Hosp, Dept Internal Med, Seoul, South Korea ^[5]

关键词 complement factor properdin colitis IL10RA protein structural analysis splicing variant very early onset inflammatory bowel disease

发布时间 2019-05-22

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