Article
A novel splicing mutation alters DSPP transcription and leads to dentinogenesis imperfecta type II.
PloS one - 1 Jan 2011
Zhang Jun, Wang Jiucun, Ma Yanyun, Du Wenqi, Zhao Siyang, Zhang Zuowei, Zhang Xiaojiao, Liu Yue, Xiao Huasheng, Wang Hongyan, Jin Li, Liu Jie
Abstract excerpt
Dentinogenesis imperfecta (DGI) type II is an autosomal dominant disease characterized by a serious disorders in teeth. Mutations of dentin sialophosphoprotein (DSPP) gene were revealed to be the causation of DGI type II (DGI-II). In this study, we identified a novel mutation (NG_011595.1:g.8662T>C, c.135+2T>C) lying in the splice donor site of intron 3 of DSPP gene in a Chinese Han DGI-II pedigree. It was found...
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