Characterization of Novel MSX1 Mutations Identified in Japanese Patients with Nonsyndromic Tooth Agenesis

Since MSX1 and PAX9 are linked to the pathogenesis of nonsyndromic tooth agenesis, we performed detailed mutational analysis of these two genes sampled from Japanese patients. We identified two novel MSX1 variants with an amino acid substitution within the homeodomain; Thr174Ile (T174I) from a spora...

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Detalles Bibliográficos
Autores principales: Yamaguchi, Seishi, Machida, Junichiro, Kamamoto, Munefumi, Kimura, Masashi, Shibata, Akio, Tatematsu, Tadashi, Miyachi, Hitoshi, Higashi, Yujiro, Jezewski, Peter, Nakayama, Atsuo, Shimozato, Kazuo, Tokita, Yoshihito
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4125152/
https://www.ncbi.nlm.nih.gov/pubmed/25101640
http://dx.doi.org/10.1371/journal.pone.0102944

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