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Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations

Colombo, Carla and Vajro, Pietro and Degiorgio, Dario and Coviello, Domenico A. and Costantino, Lucy and Tornillo, Luigi and Motta, Valentina and Consonni, Dario and Maggiore, Giuseppe and Sigenp Study Group for Genetic Cholestasis, . (2011) Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations. Journal of pediatric gastroenterology and nutrition, Vol. 52, no. 1. pp. 73-83.

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Official URL: http://edoc.unibas.ch/dok/A6002884

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Abstract

The aim of the study was to estimate the frequency of ABCB4 mutations among children with chronic intrahepatic cholestasis with elevated gamma-glutamyl-transpeptidase ( -GT) activity and to characterize the genotypes with respect to severity of symptoms, response to ursodeoxycholic acid therapy, and outcome.
Faculties and Departments:03 Faculty of Medicine > Bereich Querschnittsfächer (Klinik) > Pathologie USB
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Querschnittsfächer (Klinik) > Pathologie USB
UniBasel Contributors:Tornillo, Luigi
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Raven Press
ISSN:0277-2116
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:27 Mar 2014 13:13
Deposited On:27 Mar 2014 13:13

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