Article
Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.
Gut - 1 Jul 2013
Christodoulou Katja, Wiskin Anthony E, Gibson Jane, Tapper William, Willis Claire, Afzal Nadeem A, Upstill-Goddard Rosanna, Holloway John W, Simpson Michael A, Beattie R Mark, Collins Andrew, Ennis Sarah
Abstract excerpt
BACKGROUND: Multiple genes have been implicated by association studies in altering inflammatory bowel disease (IBD) predisposition. Paediatric patients often manifest more extensive disease and a particularly severe disease course. It is likely that genetic predisposition plays a more substantial role in this group. OBJECTIVE: To identify the spectrum of rare and novel variation in known IBD susceptibility genes...
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