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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Main Authors: Seishi Yamaguchi, Junichiro Machida, Munefumi Kamamoto, Masashi Kimura, Akio Shibata, Tadashi Tatematsu, Hitoshi Miyachi, Yujiro Higashi, Peter Jezewski, Atsuo Nakayama, Kazuo Shimozato, Yoshihito Tokita
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4125152?pdf=render