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Allele-specific silencing of EEC p63 mutant R304W restores p63 transcriptional activity
EEC (ectrodactily-ectodermal dysplasia and cleft lip/palate) syndrome is a rare genetic disease, autosomal dominant inherited. It is part of the ectodermal dysplasia disorders caused by heterozygous mutations in TP63 gene. EEC patients present limb malformations, orofacial clefting, skin and skin...
Autores principales: | Novelli, F, Lena, A M, Panatta, E, Nasser, W, Shalom-Feuerstein, R, Candi, E, Melino, G |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4917656/ https://www.ncbi.nlm.nih.gov/pubmed/27195674 http://dx.doi.org/10.1038/cddis.2016.118 |
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