Article
Mutations in COL1A1 Gene Change Dentin Nanostructure.
Anatomical record (Hoboken, N.J. : 2007) - 1 Apr 2016
Duan Xiaohong, Liu Zhenxia, Gan Yunna, Xia Dan, Li Qiang, Li Yanling, Yang Jiaji, Gao Shan, Dong Mingdong
Abstract excerpt
Although many studies have attempted to associate specific gene mutations with dentin phenotypic severity, it remains unknown how the mutations in COL1A1 gene influence the mechanical behavior of dentin collagen and matrix. Here, we reported one osteogenesis imperfecta (OI) pedigree caused by two new inserting mutations in exon 5 of COL1A1 (NM_000088.3:c.440_441insT;c.441_442insA), which resulted in the unstable...
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