An Aberrant Splice Acceptor Site Due to a Novel Intronic Nucleotide Substitution in MSX1 Gene Is the Cause of Congenital Tooth Agenesis in a Japanese Family

Congenital tooth agenesis is caused by mutations in the MSX1, PAX9, WNT10A, or AXIN2 genes. Here, we report a Japanese family with nonsyndromic tooth agenesis caused by a novel nucleotide substitution in the intronic region between exons 1 and 2 of the MSX1 gene. Because the mutation is located 9 bp...

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Detalles Bibliográficos
Autores principales: Tatematsu, Tadashi, Kimura, Masashi, Nakashima, Mitsuko, Machida, Junichiro, Yamaguchi, Seishi, Shibata, Akio, Goto, Hiroki, Nakayama, Atsuo, Higashi, Yujiro, Miyachi, Hitoshi, Shimozato, Kazuo, Matsumoto, Naomichi, Tokita, Yoshihito
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4451150/
https://www.ncbi.nlm.nih.gov/pubmed/26030286
http://dx.doi.org/10.1371/journal.pone.0128227

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