Article
Mutation identification of the DSPP in a Chinese family with DGI-II and an up-to-date bioinformatic analysis.
Genomics - 1 Apr 2012
Li Daxu, Du Xiaoyun, Zhang Rui, Shen Bo, Huang Yanli, Valenzuela Robert K, Wang Bin, Zhao Huaxiang, Liu Zunwei, Li Jianjun, Xu Zhao, Gao Linghan, Ma Jie
Abstract excerpt
In this study, through linkage analysis of a four-generation Chinese family with multiple members afflicted with DGI (type II), we identified a novel missense mutation in DSPP. The mutation was located in exon 2 at the second nucleotide position of the last codon and resulted in a substitution of a proline with a leucine residue (c.50C>T, p.P17L, g.50C>T). To assess the potential effects of this novel mutation,...
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