Article
Tooth ultrastructure changes induced by a nonsense mutation in the FAM83H gene: insights into the diversity of amelogenesis imperfecta.
Clinical oral investigations - 1 Oct 2023
Tan Li, Guo Yue, Zhong Meng-Mei, Zhao Ya-Qiong, Zhao Jie, Aimee Dusenge Marie, Feng Yao, Ye Qin, Hu Jing, Ou-Yang Ze-Yue, Chen Ning-Xin, Su Xiao-Lin, Zhang Qian, Liu Qiong, Yuan Hui, Wang Min-Yuan, Feng Yun-Zhi, Zhang Feng-Yi
Abstract excerpt
OBJECTIVES: The current research on single-nucleotide polymorphism (SNP) mutation sites at different positions of the FAM83H gene and their phenotypic changes leading to amelogenesis imperfecta (AI) is inconsistent. We identified a previously reported heterozygous nonsense mutation c.1192C>T (p.Q398*) in the FAM83H gene and conducted a comprehensive analysis of the dental ultrastructure and chemical composition...
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