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. 2015 May;262(5):1376-8.
doi: 10.1007/s00415-015-7739-y. Epub 2015 Apr 18.

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations

Viviana Pensato  1 , Cinzia Tiloca, Lucia Corrado, Cinzia Bertolin, Valentina Sardone, Roberto Del Bo, Daniela Calini, Jessica Mandrioli, Giuseppe Lauria, Letizia Mazzini, Giorgia Querin, Mauro Ceroni, Roberto Cantello, Stefania Corti, Barbara Castellotti, Giulia Soldà, Stefano Duga, Giacomo P Comi, Cristina Cereda, Gianni Sorarù, Sandra D'Alfonso, Franco Taroni, Christopher E Shaw, John E Landers, Nicola Ticozzi, Antonia Ratti, Cinzia Gellera, Vincenzo Silani; SLAGEN Consortium
Affiliations

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations

Viviana Pensato et al. J Neurol. 2015 May.
No abstract available

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Conflict of interest statement

Conflicts of interest The authors have no competing interest.

Figures

Fig. 1
Fig. 1
Minigene splicing assay for TUBA4A intronic variant c.226+4A>G. a Schematic representation of the pTB minigene system, in which light blue boxes represent a-globin exons and thick lines are introns. TUBA4A exon 2 (orange box) along with part of flanking introns was subcloned into the NdeI restriction site of the pTB vector. The primers a 2–3 and Bra2rev, used for RT-PCR analysis, are indicated as thin blue arrows in the pTB map. b HEK293 cells were transfected with wild-type (WT) or mutant (MUT) TUBA4A hybrid minigene, or with the empty vector (pTB), as indicated. The size of the transcripts, with TUBA4A exon 2 inclusion or exclusion, is indicated on the right side of the gel. The molecular weight marker (100pb DNA ladder, Life Technologies) is reported
See this image and copyright information in PMC

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