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Amelogenesis Imperfecta and Screening of Mutation in Amelogenin Gene
Joint Authors
Santos, Carlos Ferreira
Neves, Lucimara Teixeira
Machado, Maria Aparecida de Andrade Moreira
Oliveira, Fernanda Veronese
Marchini Oliveira, Thais
Yuriko Kobayashi, Tatiana
Vecchione Gurgel, Carla
Dionísio, Thiago José
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-06-19
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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).
Thus, it is suggested that the mutation found was not related to the clinical presence of AI.
Further research is necessary to examine larger number of patients and genes related to AI.
American Psychological Association (APA)
Oliveira, Fernanda Veronese& Vecchione Gurgel, Carla& Yuriko Kobayashi, Tatiana& Dionísio, Thiago José& Neves, Lucimara Teixeira& Santos, Carlos Ferreira…[et al.]. 2014. Amelogenesis Imperfecta and Screening of Mutation in Amelogenin Gene. Case Reports in Dentistry،Vol. 2014, no. 2014, pp.1-5.
https://search.emarefa.net/detail/BIM-463206
Modern Language Association (MLA)
Oliveira, Fernanda Veronese…[et al.]. Amelogenesis Imperfecta and Screening of Mutation in Amelogenin Gene. Case Reports in Dentistry No. 2014 (2014), pp.1-5.
https://search.emarefa.net/detail/BIM-463206
American Medical Association (AMA)
Oliveira, Fernanda Veronese& Vecchione Gurgel, Carla& Yuriko Kobayashi, Tatiana& Dionísio, Thiago José& Neves, Lucimara Teixeira& Santos, Carlos Ferreira…[et al.]. Amelogenesis Imperfecta and Screening of Mutation in Amelogenin Gene. Case Reports in Dentistry. 2014. Vol. 2014, no. 2014, pp.1-5.
https://search.emarefa.net/detail/BIM-463206
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-463206