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A Novel Splicing Mutation Alters DSPP Transcription and Leads to Dentinogenesis Imperfecta Type II

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>...

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Detalles Bibliográficos
Autores principales: Zhang, Jun, Wang, Jiucun, Ma, Yanyun, Du, Wenqi, Zhao, Siyang, Zhang, Zuowei, Zhang, Xiaojiao, Liu, Yue, Xiao, Huasheng, Wang, Hongyan, Jin, Li, Liu, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3220712/
https://www.ncbi.nlm.nih.gov/pubmed/22125647
http://dx.doi.org/10.1371/journal.pone.0027982