Ontology highlight
ABSTRACT:
SUBMITTER: Matte U
PROVIDER: S-EPMC4090691 | biostudies-literature | 2010 Oct
REPOSITORIES: biostudies-literature
Matte Ursula U Mourya Reena R Miethke Alexander A Liu Cong C Kauffmann Gregory G Moyer Katie K Zhang Kejian K Bezerra Jorge A JA
Journal of pediatric gastroenterology and nutrition 20101001 4
<h4>Background</h4>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.<h4>Patients and methods</h4>DNA samples were obtained from 51 subjects with cholestasis of undefined etiology and surveyed for mutations in the genes SERPINA1, JAG ...[more]