학술논문
Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies
Document Type
Article
Author
Niceta, M.; Stellacci, E.; Traversa, A.; Ciolfi, A.; Bruselles, A.; Tartaglia, M.; Gripp, K.W.; Zampino, G.; Leoni, C.; Kousi, M.; Katsanis, N.; Anselmi, M.; Palleschi, A.; Stella, L.; Bocchinfuso, G.; Caputo, V.; Stabley, D.; Sol-Church, K.; Cecchetti, S.; Prudente, S.; Fiorenza, M.T.; Boitani, C.; Philip, N.; Niyazov, D.; Nakane, T.; Keppler-Noreuil, K.; Braddock, S.R.; Gillessen-Kaesbach, G.; Campeau, P.M.; Lee, B.H.L.; Pouponnot, C.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 7 May 2015, 96(5):816-825)
Subject
Language
English
ISSN
15376605
00029297
00029297