Parental mosaicism of JAG1 mutations in families with Alagille syndrome
✍ Scribed by Giannakudis, Joannis; Röpke, Albrecht; Kujat, Annegret; Krajewska-Walasek, Malgorzata; Hughes, Helen; Fryns, Jean-Pierre; Bankier, Agnes; Amor, David; Schlicker, Mike; Hansmann, Ingo
- Book ID
- 110025104
- Publisher
- Nature Publishing Group
- Year
- 2001
- Tongue
- English
- Weight
- 179 KB
- Volume
- 9
- Category
- Article
- ISSN
- 1018-4813
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Alagille syndrome (AGS) is an autosomal dominant disorder caused by mutations in Jagged1 (JAG1), a ligand in the evolutionarily conserved Notch signaling pathway. Previous studies have demonstrated that a wide spectrum of JAG1 mutations result in AGS. These include total gene deletions, protein trun
Alagille syndrome (AGS) is caused by heterozygous mutations in JAG1, and mutations have been previously reported in about 70% of patients who meet clinical diagnostic criteria. We studied a cohort of 247 clinically well-defined patients, and using an aggressive and sequential screening approach we i
Alagille syndrome (AGS) is an autosomal dominant disorder characterized by five major symptoms: cholestasis, vertebral deformity, heart malformations, ocular defects and peculiar facial appearance. The previously described Jagged1 (JAG1) gene on chromosome 20p12 has been identified as being responsi