Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta

Abstract 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...

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Bibliographic Details
Published in:BMC Oral Health
Main Authors: Zhenwei Zhang, Xiaoying Zou, Lin Feng, Yu Huang, Feng Chen, Kai Sun, Yilin Song, Ping Lv, Xuejun Gao, Yanmei Dong, Hua Tian
Format: Article
Language:English
Published: BMC 2023-11-01
Subjects:
Amelogenesis imperfecta
AMELX
ENAM
Exon skipping
Intron retention
Online Access:https://doi.org/10.1186/s12903-023-03508-8

Internet

https://doi.org/10.1186/s12903-023-03508-8

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