Article
Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow up.
PloS one - 1 Jan 2015
Mistry Vanisha, Bockett Nicholas A, Levine Adam P, Mirza Muddassar M, Hunt Karen A, Ciclitira Paul J, Hummerich Holger, Neuhausen Susan L, Simpson Michael A, Plagnol Vincent, van Heel David A
Abstract excerpt
Coeliac disease (CeD) is a highly heritable common autoimmune disease involving chronic small intestinal inflammation in response to dietary wheat. The human leukocyte antigen (HLA) region, and 40 newer regions identified by genome wide association studies (GWAS) and dense fine mapping, account for ∼40% of the disease heritability. We hypothesized that in pedigrees with multiple individuals with CeD rare [minor...
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