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Protein aggregation of the p63 transcription factor underlies severe skin fragility in AEC syndrome

The p63 gene encodes a master regulator of epidermal commitment, development, and differentiation. Heterozygous mutations in the C-terminal domain of the p63 gene can cause ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, a life-threatening disorder characterized by skin fragility...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Proc Natl Acad Sci U S A
मुख्य लेखकों: Russo, Claudia, Osterburg, Christian, Sirico, Anna, Antonini, Dario, Ambrosio, Raffaele, Würz, Julia Maren, Rinnenthal, Jörg, Ferniani, Marco, Kehrloesser, Sebastian, Schäfer, Birgit, Güntert, Peter, Sinha, Satrajit, Dötsch, Volker, Missero, Caterina
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: National Academy of Sciences 2018
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC5798343/
https://ncbi.nlm.nih.gov/pubmed/29339502
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1713773115
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