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Akademický článek

Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa

Autor: Huang Yukan, Zhang Jing, Li Chang, Yang Guohua, Liu Mugen, Wang Qing K, Tang Zhaohui

Publikováno v: BMC Medical Genetics, Vol 11, Iss 1, p 121 (2010)

Abstract Background Retinitis pigmentosa is the most important hereditary retinal degenerative disease, which has a high degree of clinical and genetic heterogeneity. More than half of all cases of retinitis pigmentosa are autosomal recessive (arRP),

Externí odkaz: https://doaj.org/article/477c7c60bc9e46b982c0a827f15d2275

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Akademický článek

Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations

Autor: Oberti Carlos, Redfearn Sharon, Bryant Randall M, Liu Mugen, Zhang Li, Chen Shenghan, Zhang Xianqin, Vincent G Michael, Wang Qing K

Publikováno v: BMC Medical Genetics, Vol 9, Iss 1, p 87 (2008)

Abstract Background KCNQ1 and KCNH2 are the two most common potassium channel genes causing long QT syndrome (LQTS), an inherited cardiac arrhythmia featured by QT prolongation and increased risks of developing torsade de pointes and sudden death. To

Externí odkaz: https://doaj.org/article/819dbd8a47734b0da9ccd5503a77bc8c

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Akademický článek

A novel DSPP mutation is associated with type II dentinogenesis Imperfecta in a chinese family

Autor: Xu Chengqi, Wang Xiaotao, Chang Wei, Zhao Zhen, Qu Erjun, Chen Lanying, Liu Jingyu, Zhang Xianqin, Wang Qing K, Liu Mugen

Publikováno v: BMC Medical Genetics, Vol 8, Iss 1, p 52 (2007)

Abstract Background Hereditary defects of tooth dentin are classified into two main groups: dentin dysplasia (DD) (types I and II) and dentinogenesis imperfecta (DGI) (types I, II, and III). Type II DGI is one of the most common tooth defects with an

Externí odkaz: https://doaj.org/article/4345978f4fc64c0aa50f5d62b274c922

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Akademický článek

Discovery of time-delayed gene regulatory networks based on temporal gene expression profiling

Autor: Guo Zheng, Xiao Yun, Li Chuanxing, Jiang Wei, Rao Shaoqi, Li Xia, Zhang Qingpu, Wang Lihong, Du Lei, Li Jing, Li Li, Zhang Tianwen, Wang Qing K

Publikováno v: BMC Bioinformatics, Vol 7, Iss 1, p 26 (2006)

Abstract Background It is one of the ultimate goals for modern biological research to fully elucidate the intricate interplays and the regulations of the molecular determinants that propel and characterize the progression of versatile life phenomena,

Externí odkaz: https://doaj.org/article/0bef95f00295463fb1e34f10e0333505

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