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2010 | 2 |
2012 | 1 |
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Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.
Cell Rep. 2012 Dec 27;2(6):1554-62. doi: 10.1016/j.celrep.2012.11.017. Epub 2012 Dec 13.
Cell Rep. 2012.
PMID: 23246003
Free PMC article.
Clinical Trial.
Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway.
Tian G, Jaglin XH, Keays DA, Francis F, Chelly J, Cowan NJ.
Tian G, et al.
Hum Mol Genet. 2010 Sep 15;19(18):3599-613. doi: 10.1093/hmg/ddq276. Epub 2010 Jul 5.
Hum Mol Genet. 2010.
PMID: 20603323
Free PMC article.
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Tuba8 is expressed at low levels in the developing mouse and human brain.
Braun A, Breuss M, Salzer MC, Flint J, Cowan NJ, Keays DA.
Braun A, et al.
Am J Hum Genet. 2010 May 14;86(5):819-22; author reply 822-3. doi: 10.1016/j.ajhg.2010.03.019.
Am J Hum Genet. 2010.
PMID: 20466094
Free PMC article.
No abstract available.
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