Article
The significance of human jagged 1 mutations detected in severe cases of extrahepatic biliary atresia.
Hepatology (Baltimore, Md.) - 1 Oct 2002
Kohsaka Takao, Yuan Zeng-Rong, Guo Shu-Xia, Tagawa Manabu, Nakamura Akio, Nakano Miwako, Kawasasaki Hideo, Inomata Yukihiro, Tanaka Koichi, Miyauchi Jun
Abstract excerpt
Mutations of human jagged 1 (JAG1) gene are responsible for Alagille Syndrome (AGS), whose 2 main symptoms are intrahepatic bile duct hypoplasia and pulmonary stenosis. We examined the JAG1 mutation in extrahepatic biliary atresia (EHBA), which is similar in phenotype to AGS, although a different pathogenesis is suggested. In 102 cases of EHBA, 9 missense mutations were detected, including 2 intrafamilial...
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