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Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
Deng J, Yu J, Li P, Luan X, Cao L, Zhao J, Yu M, Zhang W, Lv H, Xie Z, Meng L, Zheng Y, Zhao Y, Gang Q, Wang Q, Liu J, Zhu M, Guo X, Su Y, Liang Y, Liang F, Hayashi T, Maeda MH, Sato T, Ura S, Oya Y, Ogasawara M, Iida A, Nishino I, Zhou C, Yan C, Yuan Y, Hong D, Wang Z. Deng J, et al. Among authors: cao l. Am J Hum Genet. 2020 Jun 4;106(6):793-804. doi: 10.1016/j.ajhg.2020.04.011. Epub 2020 May 14. Am J Hum Genet. 2020. PMID: 32413282 Free PMC article.
Myotonia congenita: novel mutations in CLCN1 gene.
Liu XL, Huang XJ, Shen JY, Zhou HY, Luan XH, Wang T, Chen SD, Wang Y, Tang HD, Cao L. Liu XL, et al. Among authors: cao l. Channels (Austin). 2015;9(5):292-8. doi: 10.1080/19336950.2015.1075676. Epub 2015 Aug 11. Channels (Austin). 2015. PMID: 26260254 Free PMC article.
Novel ATM mutations with ataxia-telangiectasia.
Liu XL, Wang T, Huang XJ, Zhou HY, Luan XH, Shen JY, Chen SD, Cao L. Liu XL, et al. Among authors: cao l. Neurosci Lett. 2016 Jan 12;611:112-5. doi: 10.1016/j.neulet.2015.11.036. Epub 2015 Nov 25. Neurosci Lett. 2016. PMID: 26628246
Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.
Yin XM, Lin JH, Cao L, Zhang TM, Zeng S, Zhang KL, Tian WT, Hu ZM, Li N, Wang JL, Guo JF, Wang RX, Xia K, Zhang ZH, Yin F, Peng J, Liao WP, Yi YH, Liu JY, Yang ZX, Chen Z, Mao X, Yan XX, Jiang H, Shen L, Chen SD, Zhang LM, Tang BS. Yin XM, et al. Among authors: cao l. Hum Mol Genet. 2018 Feb 15;27(4):625-637. doi: 10.1093/hmg/ddx430. Hum Mol Genet. 2018. PMID: 29294000
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