Article
Exome sequencing in a family segregating for celiac disease.
Clinical genetics - 1 Aug 2011
Szperl A M, Ricaño-Ponce I, Li J K, Deelen P, Kanterakis A, Plagnol V, van Dijk F, Westra H J, Trynka G, Mulder C J, Swertz M, Wijmenga Cisca, Zheng H C H
Abstract excerpt
Celiac disease is a multifactorial disorder caused by an unknown number of genetic factors interacting with an environmental factor. Hence, most patients are singletons and large families segregating with celiac disease are rare. We report on a three-generation family with six patients in which the inheritance pattern is consistent with an autosomal dominant model. To date, 27 loci explain up to 40% of the...
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