Genetic alterations in the JAG1 gene in Japanese patients with Alagille syndrome

@article{Onouchi1999GeneticAI,
  title={Genetic alterations in the JAG1 gene in Japanese patients with Alagille syndrome},
  author={Yoshihiro Onouchi and Hiroki Kurahashi and Hitoshi Tajiri and Shinobu Ida and Shintaro Okada and Yusuke Nakamura},
  journal={Journal of Human Genetics},
  year={1999},
  volume={44},
  pages={235-239}
}
AbstractAlagille syndrome (AGS) is a congenital anomaly syndrome that affects liver, heart, pulmonary artery, eyes, face, and skeleton. Recently, mutations of the JAG1 gene, which encodes a ligand for the Notch receptor, have been identified in AGS patients. We investigated the JAG1 gene for genetic alterations in eight Japanese AGS patients, using fluorescence in situ hybridization (FISH), single strand conformation polymorphism (SSCP) analysis, and direct sequencing. Subtle genetic… CONTINUE READING
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