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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...
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| 出版年: | Proc Natl Acad Sci U S A |
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| 主要な著者: | , , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
National Academy of Sciences
2018
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| 主題: | |
| オンライン･アクセス: | 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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