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�...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Cell Death Dis
Päätekijät: Novelli, F, Lena, A M, Panatta, E, Nasser, W, Shalom-Feuerstein, R, Candi, E, Melino, G
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2016
Aiheet:
Original Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4917656/
https://ncbi.nlm.nih.gov/pubmed/27195674
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/cddis.2016.118
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