ENAM Mutations in Autosomal-dominant Amelogenesis Imperfecta

@article{Kim2005ENAMMI,
  title={ENAM Mutations in Autosomal-dominant Amelogenesis Imperfecta},
  author={J.-W. Kim and Figen Seymen and Brent P-L Lin and Başak Kiziltan and Koray Gençay and James P Simmer and J.C.-C. Hu},
  journal={Journal of Dental Research},
  year={2005},
  volume={84},
  pages={278 - 282}
}
  • J. Kim, F. Seymen, +4 authors J. Hu
  • Published 1 March 2005
  • Biology, Medicine
  • Journal of Dental Research
To date, 4 unique enamelin gene (ENAM) defects have been identified in kindreds with amelogenesis imperfecta. To improve our understanding of the roles of enamelin in normal enamel formation, and to gain information related to possible genotype/phenotype correlations, we have identified 2 ENAM mutations in kindreds with hypoplastic ADAI, 1 novel (g.4806A>C, IVS6-2A>C) and 1 previously identified (g.8344delG), and have characterized the resulting enamel phenotypes. The IVS6-2A>C mutation caused… Expand
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