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Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9

Mutations in the paired-domain transcription factor PAX9 are associated with non-syndromic tooth agenesis that preferentially affects posterior dentition. Of the 18 mutations identified to date, eight are phenotypically well-characterized missense mutations within the DNA-binding paired domain. We d...

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Autors principals: Wang, Ying, Groppe, Jay C., Wu, Jingfeng, Ogawa, Takuya, Mues, Gabriele, D'Souza, Rena N., Kapadia, Hitesh
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2009
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2706687/
https://ncbi.nlm.nih.gov/pubmed/19429910
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp221
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