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A novel multidrug‐resistance protein 2 gene mutation identifies a subgroup of patients with primary biliary cirrhosis and pruritus
Author(s) -
Floreani Annarosa,
Carderi Isabella,
Variola Angela,
Rizzotto Erik Rosa,
Nicol James,
Bergasa Nora V.
Publication year - 2006
Publication title -
hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.488
H-Index - 361
eISSN - 1527-3350
pISSN - 0270-9139
DOI - 10.1002/hep.21165
Subject(s) - exon , primary biliary cirrhosis , multiple drug resistance , gene , mutation , biliary cirrhosis , valine , cirrhosis , gastroenterology , medicine , allele , biology , genetics , drug resistance , amino acid , antibody , autoimmune disease
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. (H EPATOLOGY 2006;43:1152–1154.)