Article
Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.
BMC oral health - 20 Nov 2023
Zhang Zhenwei, Zou Xiaoying, Feng Lin, Huang Yu, Chen Feng, Sun Kai, Song Yilin, Lv Ping, Gao Xuejun, Dong Yanmei, Tian Hua
Abstract excerpt
BACKGROUND: Amelogenesis imperfecta (AI) is a developmental enamel defect affecting the structure of enamel, esthetic appearance, and the tooth masticatory function. Gene mutations are reported to be relevant to AI. However, the mechanism underlying AI caused by different mutations is still unclear. This study aimed to reveal the molecular pathogenesis in AI families with 2 novel pre-mRNA splicing mutations....
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