title: A novel multidrug-resistance protein 2 gene mutation identifies a subgroup of patients with primary biliary cirrhosis and pruritus.
abstract: A single nucleotide polymorphism characterized by the substitution of valine for glutamate (V1188E) in exon 25 of the multidrug resistance protein 2 gene was found in a group of patients with primary biliary cirrhosis. This heterozygous mutation was significantly associated with the presence of pruritus.
authors.affiliation: Department of Surgical and Gastroenterological Sciences, University of Padova, Italy. annarosa.floreani@unipd.it
authors.forename: Annarosa
authors.initials: A
authors.lastname: Floreani
authors.forename: Isabella
authors.initials: I
authors.lastname: Carderi
authors.forename: Angela
authors.initials: A
authors.lastname: Variola
authors.forename: Erik Rosa
authors.initials: ER
authors.lastname: Rizzotto
authors.forename: James
authors.initials: J
authors.lastname: Nicol
authors.forename: Nora V
authors.initials: NV
authors.lastname: Bergasa
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B / Q000235:genetics*; D006801:Humans; D008105:Liver Cirrhosis, Biliary / Q000150:complications* / Q000235:genetics*; D009154:Mutation; D011537:Pruritus / Q000209:etiology* / Q000235:genetics*; D000097202:ATP-Binding Cassette Sub-Family B Member 4
chemical_list: D018435:ATP Binding Cassette Transporter, Subfamily B; D000097202:ATP-Binding Cassette Sub-Family B Member 4