Amelogenesis Imperfecta and Screening of Mutation in Amelogenin Gene

@inproceedings{Oliveira2014AmelogenesisIA,
  title={Amelogenesis Imperfecta and Screening of Mutation in Amelogenin Gene},
  author={Fernanda V Oliveira and Carla Vecchione Gurgel and Tatiana Yuriko Kobayashi and Thiago J Dion{\'i}sio and Lucimara T Neves and Carlos Ferreira Dos Santos and Maria Aparecida de Andrade Moreira Machado and Thais Marchini de Oliveira},
  booktitle={Case reports in dentistry},
  year={2014}
}
The aim of this study was to report the clinical findings and the screening of mutations of amelogenin gene of a 7-year-old boy with amelogenesis imperfecta (AI). The genomic DNA was extracted from saliva of patient and his family, followed by PCR and direct DNA sequencing. The c.261C>T mutation was found in samples of mother, father, and brother, but the mutation was not found in the sequence of the patient. This mutation is a silent mutation and a single-nucleotide polymorphism (rs2106416… CONTINUE READING

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