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3020insC mutation within the NOD2 gene in Crohn's disease: frequency and association with clinical pattern in an Italian population

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    Most studies show no association between CARD15 mutations and susceptibility to ulcerative colitis, only to Crohn's disease. Within the range of clinical presentations of Crohn's disease, phenotypic associations that involve the ileum are the most well replicated;37,42,44,53–55 furthermore, double-dose carriers are unlikely to have purely colonic Crohn's disease. Associations between CARD15 mutations and earlier-onset disease in adult populations,38,43,44 fistulising disease,56 and fibrostenosing disease behaviour have also been described.43,44,57

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