Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome
✍ Scribed by Cécile Crosnier*; Catherine Driancourt*; Nicole Raynaud*; Sophie Dhorne–Pollet*; Nicolas Pollet*; Olivier Bernard‡; Michelle Hadchouel*; ‡; Michèle Meunier–Rotival*
- Book ID
- 118521621
- Publisher
- Elsevier Science
- Year
- 1999
- Tongue
- English
- Weight
- 210 KB
- Volume
- 116
- Category
- Article
- ISSN
- 0016-5085
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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