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Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene
Despite the central role of chromosomal context in gene transcription, human noncoding DNA variants are generally studied outside of their genomic location. This limits our understanding of disease-causing regulatory variants. INS promoter mutations cause recessive neonatal diabetes. We show that al...
Autores principales: | Akerman, Ildem, Maestro, Miguel Angel, De Franco, Elisa, Grau, Vanessa, Flanagan, Sarah, García-Hurtado, Javier, Mittler, Gerhard, Ravassard, Philippe, Piemonti, Lorenzo, Ellard, Sian, Hattersley, Andrew T., Ferrer, Jorge |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cell Press
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8052186/ https://www.ncbi.nlm.nih.gov/pubmed/33852861 http://dx.doi.org/10.1016/j.celrep.2021.108981 |
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