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�...

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Detalles Bibliográficos
Autores principales: Novelli, F, Lena, A M, Panatta, E, Nasser, W, Shalom-Feuerstein, R, Candi, E, Melino, G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Original Article
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

Internet

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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