Nystagmus 6, Congenital, X-linked
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References
Liu J, Jia Y, Wang L, Bu J. A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family. Indian J Ophthalmol. 2016 Nov;64(11):813-817.
Kim US, Cho E, Kim HJ. A novel nonsense mutation of GPR143 gene in a Korean kindred with X-linked congenital nystagmus. Int J Ophthalmol. 2016 Sep 18;9(9):1367-70.
Han R, Wang X, Wang D, Wang L, Yuan Z, Ying M, Li N. GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus. Sci Rep. 2015 Jul 10;5:12031.
Peng Y, Meng Y, Wang Z, Qin M, Li X, Dian Y, Huang S. A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus. Mol Vis. 2009;15:810-4.
Zhou P, Wang Z, Zhang J, Hu L, Kong X. Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus. Mol Vis. 2008 May 30;14:1015-9.
Liu JY, Ren X, Yang X, Guo T, Yao Q, Li L, Dai X, Zhang M, Wang L, Liu M, Wang QK. Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation. J Hum Genet. 2007;52(6):565-70.
Amouri R, Moreira MC, Zouari M, El Euch G, Barhoumi C, Kefi M, Belal S, Koenig M, Hentati F. Aprataxin gene mutations in Tunisian families. Neurology. 2004 Sep 14;63(5):928-9.