A novel multidrug‐resistance protein 2 gene mutation identifies a subgroup of patients with primary biliary cirrhosis and pruritus | Zendy

Floreani Annarosa | Zendy; Carderi Isabella | Zendy; Variola Angela | Zendy; Rizzotto Erik Rosa | Zendy; Nicol James | Zendy; Bergasa Nora V. | Zendy

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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.)

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