Biallelic mutations in the 3 ' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
- Author(s):
- Lardelli, R.M.; Schaffer, A.E.; Eggens, V.R.C.; Zaki, M.S.; Grainger, S.; Sathe, S.; Nostrand, E.L. van; Schlachetzki, Z.; Rosti, B.; Akizu, N.; Scott, E.; Silhavy, J.L.; Heckman, L.D.; Rosti, R.O.; Dikoglu, E.; Gregor, A.; Guemez-Gamboa, A.; Musaev, D.; Mande, R.; Widjaja, A.; Shaw, T.L.; Markmiller, S.; Marin-Valencia, I.; Davies, J.H.; Meirleir, L. de; Kayserili, H.; Altunoglu, U.; Freckmann, M.L.; Warwick, L.; Chitayat, D.; Blaser, S.; Caglayan, A.O.; Bilguvar, K.; Per, H.; Fagerberg, C.; Christesen, H.T.; Kibaek, M.; Aldinger, K.A.; Manchester, D.; Matsumoto, N.; Muramatsu, K.; Saitsu, H.; Shiina, M.; Ogata, K.; Foulds, N.; Dobyns, W.B.; Chi, N.C.; Traver, D.; Spaccini, L.; Bova, S.M.; Gabrie, S.B.; Gunel, M.; Valente, E.M.; Nassogne, M.C.; Bennett, E.J.; Yeo, G.W.; Baas, F. (0000-0003-3912-5428); Lykke-Andersen, J.; Gleeson, J.G.
- Published
- 2017
- Publication type
- Article / Letter to editor
- Date issued
- 2017-03-31
- Language
- English
- Is part of
- Nature Genetics (2017), Vol. 49, no. 3, p. 457-464
- hdl
- 1887/114885
- doi
- 10.1038/ng.3762
