학술논문
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations
Document Type
Article
Author
Rainger, J.; Bengani, H.; Williamson, K.A.; Meynert, A.; Rainger, J.K.; Seawright, A.; Van Heyningen, V.; Taylor, M.S.; FitzPatrick, D.R.; Pehlivan, D.; Karaca, E.; Gonzaga-Jauregui, C.; Gibbs, R.A.; Lupski, J.R.; Jhangiani, S.; Muzny, D.M.; Johansson, S.; Knappskog, P.M.; Houge, G.; Floyd, J.A.B.; Anderson, C.A.; Hurles, M.E.; Sanchez-Pulido, L.; Ponting, C.P.; Rosendahl, K.; Spranger, J.; Horn, D.; Prescott, T.; Kharbanda, M.; Murday, V.; Barker, H.; Finch, A.; Soares, D.C.; Ture, M.; Yakut, T.; Hurles, M.; FitzPatrick, D.R.; Al-Turki, S.; Anderson, C.; Barroso, I.; Beales, P.; Bentham, J.; Bhattacharya, S.; Carss, K.; Chatterjee, K.; Cirak, S.; Cosgrove, C.; Daly, A.; Floyd, J.; Franklin, C.; Futema, M.; Humphries, S.; McCarthy, S.; Mitchison, H.; Muntoni, F.; Onoufriadis, A.; Parker, V.; Payne, F.; Plagnol, V.; Raymond, L.; Savage, D.; Scambler, P.; Schmidts, M.; Semple, R.; Serra, E.; Stalker, J.; Van Kogelenberg, M.; Vijayarangakannan, P.; Walter, K.; Wood, G.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 5 June 2014, 94(6):915-923)
Subject
Language
English
ISSN
15376605
00029297
00029297