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[From gene to disease; 'frame shift'-mutation in the CARD15-gene and Crohn's disease].

Nederlands tijdschrift voor geneeskunde - 28 Dec 2002

van der Linde K, Kuipers E J, de Rooij F W M, Wilson J H P

Abstract excerpt

A pericentromeric region on chromosome 16 (IBD1 locus) has been linked with Crohn's disease (CD). Very recently, three genetic variants in the CARD15 gene within the IBD1 locus have been identified which were highly associated with CD. Carriage increases the relative risk of developing CD. One specific mutation (3020insC) leads to a stop codon and truncation of the C-terminal tandem leucine-rich repeats (LRR) of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 12532667

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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