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Mutations in TUBB8 and Human Oocyte Meiotic Arrest.
Feng R, Sang Q, Kuang Y, Sun X, Yan Z, Zhang S, Shi J, Tian G, Luchniak A, Fukuda Y, Li B, Yu M, Chen J, Xu Y, Guo L, Qu R, Wang X, Sun Z, Liu M, Shi H, Wang H, Feng Y, Shao R, Chai R, Li Q, Xing Q, Zhang R, Nogales E, Jin L, He L, Gupta ML Jr, Cowan NJ, Wang L. Feng R, et al. N Engl J Med. 2016 Jan 21;374(3):223-32. doi: 10.1056/NEJMoa1510791. N Engl J Med. 2016. PMID: 26789871 Free PMC article.
Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.
Breuss M, Heng JI, Poirier K, Tian G, Jaglin XH, Qu Z, Braun A, Gstrein T, Ngo L, Haas M, Bahi-Buisson N, Moutard ML, Passemard S, Verloes A, Gressens P, Xie Y, Robson KJ, Rani DS, Thangaraj K, Clausen T, Chelly J, Cowan NJ, Keays DA. Breuss M, et al. 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.