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...

Descripción completa

Detalles Bibliográficos
Autores principales:	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
Formato:	Journal article
Lenguaje:	English
Publicado:	2007

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

Ejemplares similares