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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Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4125152/
https://ncbi.nlm.nih.gov/pubmed/25101640
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0102944
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