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Article

Novel exonic mutation inducing aberrant splicing in the IL10RA gene and resulting in infantile-onset inflammatory bowel disease: a case report.

BMC gastroenterology - 28 Jan 2016

Yanagi Tadahiro, Mizuochi Tatsuki, Takaki Yugo, Eda Keisuke, Mitsuyama Keiichi, Ishimura Masataka, Takada Hidetoshi, Shouval Dror S, Griffith Alexandra E, Snapper Scott B, Yamashita Yushiro, Yamamoto Ken

Abstract excerpt

BACKGROUND: Although deleterious mutations in interleukin-10 and its receptor molecules cause severe infantile-onset inflammatory bowel disease, there are no reports of mutations affecting this signaling pathway in Japanese patients. Here we report a novel exonic mutation in the IL10RA gene that caused unique splicing aberrations in a Japanese patient with infantile-onset of inflammatory bowel disease in...

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Identifiers

PMID: 26822028
DOI: 10.1186/s12876-016-0424-5
PMCID: PMC4730728

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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