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Article

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

European journal of gastroenterology & hepatology - 1 Dec 2018

Jung Eun Suk, Petersen Britt-Sabina, Mayr Gabriele, Cheon Jae Hee, Kang Yunkoo, Lee Seok Joo, Che Xiumei, Kim Won Ho, Kim Seung, Schreiber Stefan, Franke Andre, Koh Hong

Abstract excerpt

OBJECTIVES: Inflammatory bowel diseases (IBDs) are chronic and multifactorial diseases resulting from a complex interaction of host genetic factors and environmental stimuli. Although many genome-wide association studies have identified host genetic factors associated with IBD, rare Mendelian forms of IBD have been reported in patients with very early onset forms. Therefore, this study aimed to identify genetic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 30199474
DOI: 10.1097/MEG.0000000000001247

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