A 3 base pair deletion in TBX1 leads to reduced protein expression and transcriptional activity

Transcription factor TBX1 plays a pivotal role in heart development and has been implicated in 22q11.2 deletion syndrome. The structure of this protein has been elucidated, and several mutations have been identified that disrupt TBX1 localization, DNA/protein-binding, or mRNA expression. This study...

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Detalles Bibliográficos
Autores principales: Xu, Yuejuan, Fang, Shaohai, Zhang, Erge, Pu, Tian, Cao, Ruixue, Fu, Qihua, Li, Fen, Chen, Sun, Sun, Kun, Xu, Rang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5341160/
https://www.ncbi.nlm.nih.gov/pubmed/28272434
http://dx.doi.org/10.1038/srep44165

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5341160/
https://www.ncbi.nlm.nih.gov/pubmed/28272434
http://dx.doi.org/10.1038/srep44165

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