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Analysis of gene mutations in children with cholestasis of undefined etiology.

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.

PubMed ID: 20683201
Public Release Type: Journal
Publication Year: 2010
Affiliation: Cincinnati Children's Hospital Medical Center.
DOI: https://doi.org/10.1097/MPG.0b013e3181dffe8f
Authors: Moyer K, Liu C, Miethke A, Mourya R, Matte U, Bezerra JA, Zhang K, Kauffmann G
Studies: A Prospective Database of Infants With Cholestasis

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.

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Analysis of gene mutations in children with cholestasis of undefined etiology.

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