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

✍ Scribed by Annarosa Floreani; Isabella Carderi; Angela Variola; Erik Rosa Rizzotto; James Nicol; Nora V. Bergasa

Book ID: 102239117
Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 237 KB
Volume: 43
Category: Article
ISSN: 0270-9139
DOI: 10.1002/hep.21165

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✦ Synopsis

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.

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