Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome
✍ Scribed by Jean-Pierre Delaunoy; Fatima Abidi; Maria Zeniou; Sylvie Jacquot; Karine Merienne; Solange Pannetier; Michèle Schmitt; Charles E. Schwartz; André Hanauer
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 369 KB
- Volume
- 17
- Category
- Article
- ISSN
- 1059-7794
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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.