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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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| Publicado no: | Sci Rep |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5341160/ https://ncbi.nlm.nih.gov/pubmed/28272434 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep44165 |
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