The significance of human jagged 1 mutations detected in severe cases of extrahepatic biliary atresia.

@article{Kohsaka2002TheSO,
  title={The significance of human jagged 1 mutations detected in severe cases of extrahepatic biliary atresia.},
  author={Takao Kohsaka and Zeng-rong Yuan and Shu-xia Guo and Manabu Tagawa and Akio Nakamura and Toshihiko Watanabe Miwako Nakano and Hideo Kawasasaki and Yukihiro Inomata and Koichi Tanaka and Jun Miyauchi},
  journal={Hepatology},
  year={2002},
  volume={36 4 Pt 1},
  pages={
          904-12
        }
}
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 expressions in the propositus and an aunt of one family. These mutations were all missense… CONTINUE READING

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