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Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.
Authors: Budny, B.; Badura-Stronka, M.; Materna-Kiryluk, A.; Tzschach, Andreas; Raynaud, M.; Latos-Bielenska, A.; Ropers, Hans-Hilger
Date of Publication (YYYY-MM-DD): 2010-03-19
Title of Journal: Clinical Genetics: an International Journal of Genetics in Medicine
Volume: 77
Issue / Number: 6
Start Page: 541
End Page: 551
Document Type: Article
ID: 532417.0


Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism
Authors: Laumonnier, F.; Shoubridge, C.; Antar, C.; Nguyen, L. S.; Van Esch, H.; Kleefstra, T.; Briault, S.; Fryns, J. P.; Hamel, B.; Chelly, J.; Ropers, H.-H.; Ronce, N.; Blesson, S.; Moraine, C.; G├ęcz, J.; Raynaud, M.
Date of Publication (YYYY-MM-DD): 2009-02-24
Title of Journal: Molecular Psychiatry
Volume: 2009
Start Page: 1
End Page: 10
Document Type: Article
ID: 473311.0