Article
Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease.
The Journal of biological chemistry - 12 May 2017
van Haaften-Visser Désirée Y, Harakalova Magdalena, Mocholi Enric, van Montfrans Joris M, Elkadri Abdul, Rieter Ester, Fiedler Karoline, van Hasselt Peter M, Triffaux Emily M M, van Haelst Mieke M, Nijman Isaac J, Kloosterman Wigard P, Nieuwenhuis Edward E S, Muise Aleixo M, Cuppen Edwin, Houwen Roderick H J, Coffer Paul J
Abstract excerpt
Infantile-onset inflammatory bowel disease (IO IBD) is an invalidating illness with an onset before 2 years of age and has a complex pathophysiology in which genetic factors are important. Homozygosity mapping and whole-exome sequencing in an IO IBD patient and subsequent sequencing of the candidate gene in 12 additional IO IBD patients revealed two patients with two mutated ankyrin repeat and zinc-finger...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.