Ontology highlight
ABSTRACT:
SUBMITTER: Zhang J
PROVIDER: S-EPMC3220712 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
Zhang Jun J Wang Jiucun J Ma Yanyun Y Du Wenqi W Zhao Siyang S Zhang Zuowei Z Zhang Xiaojiao X Liu Yue Y Xiao Huasheng H Wang Hongyan H Jin Li L Liu Jie J
PloS one 20111118 11
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 in all affected subjects but not in unaffected ones or other unrelated healthy contr ...[more]