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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Bibliografische gegevens
Hoofdauteurs: Yamaguchi, Seishi, Machida, Junichiro, Kamamoto, Munefumi, Kimura, Masashi, Shibata, Akio, Tatematsu, Tadashi, Miyachi, Hitoshi, Higashi, Yujiro, Jezewski, Peter, Nakayama, Atsuo, Shimozato, Kazuo, Tokita, Yoshihito
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Public Library of Science 2014
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Research Article
Online toegang: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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