Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

We have recently reported a missense mutation in exon 4 of the tubulin alpha 1A (Tuba1a) gene in a hyperactive N-ethyl-N-nitrosourea (ENU) induced mouse mutant with abnormal lamination of the hippocampus. Neuroanatomical similarities between the Tuba1a mutant mouse and mice deficient for Doublecorti...

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Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Poirier, K, Keays, D, Francis, F, Saillour, Y, Bahi, N, Manouvrier, S, Fallet-Bianco, C, Pasquier, L, Toutain, A, Tuy, F, Bienvenu, T, Joriot, S, Odent, S, Ville, D, Desguerre, I, Goldenberg, A, Moutard, M, Fryns, J, van Esch, H, Harvey, R, Siebold, C, Flint, J, Beldjord, C, Chelly, J
Μορφή: Journal article
Γλώσσα:English
Έκδοση: 2007

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