A Novel Mutation in the Connexin 50 Gene (GJA8) Associated with Autosomal Dominant Congenital Nuclear Cataract in a Chinese Family

By Gao Xiaobo   Cheng Jie   Lu Cailing   Li Xiaoqiao   Li Feifeng   Liu Chunmei   Zhang Meng   Zhu Siquan   Ma Xu  

Current Eye Research, Vol. 35, Iss. 7, 2010-07 ,pp. : 597-604

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A Novel CRYBB2 Missense Mutation Causing Congenital Autosomal Dominant Cataract in an Italian Family

By Faletra Flavio   d'Adamo Adamo Pio   Pensiero Stefano   Athanasakis Emmanouil   Catalano Dario   Bruno Irene   Gasparini Paolo  

Ophthalmic Genetics, Vol. 34, Iss. 1-2, 2013-06 ,pp. : 115-117

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A R54L Mutation of CRYAA Associated with Autosomal Dominant Nuclear Cataracts in a Chinese Family

By Yang Zhenfei   Su Dongmei   Li Qian   Ma Zicheng   Yang Fan   Zhu Siquan   Ma Xu  

Current Eye Research, Vol. 38, Iss. 12, 2013-12 ,pp. : 1221-1228

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Identification of the p. R116H mutation in a Chinese Family with Novel Variable Cataract Phenotype: Evidence for a Mutational Hot Spot in αA-Crystallin Gene

By Wang Binbin   Wang Kai Jie   Zhu Si Quan   Wang Jing   Ma Xu  

Ophthalmic Genetics, Vol. 33, Iss. 3, 2012-09 ,pp. : 134-138

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Novel rhodopsin mutation in a Chinese family with autosomal dominant retinitis pigmentosa

By Zhao Kanxing   Xiong Shihong   Wang Li   Wang Lejin   Cui Yun   Wang Qing  

Ophthalmic Genetics, Vol. 22, Iss. 3, 2001-09 ,pp. : 155-162

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