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Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes

✍ Scribed by Catherine E. Keegan; Janna E. Hutz; Andrea S. Krause; Katrin Koehler; Louise A. Metherell; Sosipatros Boikos; Sotirios Stergiopoulos; Adrian J. L. Clark; Constantine A. Stratakis; Angela Huebner; Gary D. Hammer


Book ID
108703744
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
117 KB
Volume
67
Category
Article
ISSN
0300-0664

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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.