Mutations in the human JAGGED1 gene cause Alagille syndrome, an autosomal dominant developmental disorder. The gene encodes a transmembrane protein which is a ligand of Notch receptors. We report 23 mutations in previously undescribed probands, including 15 novel mutations and 8 recurrent mutations.
β¦ LIBER β¦
Genetic alterations in theJAG1gene in Japanese patients with Alagille syndrome
β Scribed by Yoshihiro Onouchi; Hiroki Kurahashi; Hitoshi Tajiri; Shinobu Ida; Shintaro Okada; Y. Nakamura
- Publisher
- Nature Publishing Group
- Year
- 1999
- Tongue
- English
- Weight
- 193 KB
- Volume
- 44
- Category
- Article
- ISSN
- 1435-232X
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