𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Genetic alterations in theJAG1gene in Japanese patients with Alagille syndrome

✍ 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

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Fifteen novel mutations in the JAGGED1 g
✍ CΓ©cile Crosnier; Catherine Driancourt; Nicole Raynaud; Michelle Hadchouel; MichΓ¨ πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 23 KB πŸ‘ 2 views

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.

Twelve novel JAG1 gene mutations in poli
✍ Dorota Jurkiewicz; Ewa Popowska; Christiane GlΓ€ser; Ingo Hansmann; MaΕ‚gorzata Kr πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 119 KB πŸ‘ 1 views

Communicated by Mark H. Paalman Alagille syndrome (AGS) is an autosomal dominant disorder with developmental abnormalities of the liver, heart, eyes, vertebrae, and face. Mutations in the JAG1 (Jagged 1) gene, coding a ligand in the evolutionarily conserved Notch signaling pathway, are responsible f