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Article: Novel mutation found in Japanese patient with Dubin-Johnson syndrome.
- Article from:
- Health & Medicine Week
- Article date:
- November 24, 2003
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2003 NOV 24 - (NewsRx.com & NewsRx.net) -- Researchers have identified a novel 2026G-->C mutation of the MRP2 gene in a Japanese patient with Dubin-Johnson syndrome.
"Dubin-Johnson syndrome is a recessive inherited disorder with conjugated hyperbilirubinemia caused by a dysfunction of multidrug resistance protein 2 (MRP2) on the canalicular membrane of hepatocytes. A mutational analysis of the MRP2 gene was carried out in three Japanese patients and their family members," investigators in Japan report.
"In two patients, the homozygous mutations c.1901del67 and c.2272del168 were found," said Shinya Wakusawa and collaborators at Hokuriku University and ...