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Publication Information
Affiliation
Cincinnati Children's Hospital Medical Center.
Authors
Bezerra JA, Kauffmann G, Liu C, Matte U, Miethke A, Mourya R, Moyer K, Zhang K
Studies
Citation
Matte U, Mourya R, Miethke A, Liu C, Kauffmann G, Moyer K, Zhang K, Bezerra JA. Analysis of gene mutations in children with cholestasis of undefined etiology. J Pediatr Gastroenterol Nutr 2010 Oct;51(4):488-493.Abstract
The discovery of genetic mutations in children with inherited syndromes of intrahepatic cholestasis allows for diagnostic specificity despite similar clinical phenotypes. Here, we aimed to determine whether mutation screening of target genes could assign a molecular diagnosis in children with idiopathic cholestasis.