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Article

Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease.

Genes and immunity - 1 Jul 2012

Mao H, Yang W, Lee P P W, Ho M H-K, Yang J, Zeng S, Chong C-Y, Lee T-L, Tu W, Lau Y-L

Abstract excerpt

Inflammatory bowel disease is well recognized for a strong genetic involvement in its pathogenesis. Homozygous mutations in interleukin-10 receptor 1 (IL-10R1) identified by linkage analysis were shown to be involved in this disorder. However, the underlying molecular mechanism and the causal nat...

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Identifiers

PMID: 22476154
DOI: 10.1038/gene.2012.8

Genes

STAT3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-22476154-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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