title: Review: molecular approaches to inherited liver disease. Focus on Wilson disease.
abstract: Although infectious agents account for a large proportion of liver disease, inherited forms of liver disease, often treatable, must not be overlooked. New approaches to the cloning of disease genes are allowing an increased understanding of the basic defect of human diseases. Identification of disease genes can have practical applications for diagnosis, can provide information on prognosis and can lead to new therapies. This review focuses on selected inherited liver diseases and the knowledge to be gained from molecular studies. Three genetic diseases affecting the liver, Wilson disease, haemochromatosis and alpha 1-antitrypsin deficiency, are selected as examples of current approaches to the study of genetic liver disease.
authors.affiliation: Department of Medical Genetics, University of Alberta, Edmonton, Canada. diane.cox@ualberta.ca
authors.forename: D W
authors.initials: DW
authors.lastname: Cox
mesh_terms: D006432:Hemochromatosis / Q000235:genetics; D006527:Hepatolenticular Degeneration / Q000235:genetics*; D006801:Humans; D008107:Liver Diseases / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency / Q000235:genetics*