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Article

A Synonymous Variant in <i>IL10RA</i> Affects RNA Splicing in Paediatric Patients with Refractory Inflammatory Bowel Disease

13 May 2016

Abstract excerpt

Interleukin-10 receptor [IL10R] mutations are associated with severe childhood inflammatory bowel disease [IBD]. Two unrelated patients who died of very early-onset severe IBD and sepsis were identified as harbouring the same compound heterozygous mutations in IL10RA [p.R101W; p.T179T]. A third patient was found to be homozygous for p.T179T. The missense change of p.R101W has been reported. The synonymous change...

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PMID: 27177777
DOI: 10.1093/ecco-jcc/jjw102

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