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Somatic recombination underlies frequent revertant mosaicism in loricrin keratoderma
Revertant mosaicism is a phenomenon in which pathogenic mutations are rescued by somatic events, representing a form of natural gene therapy. Here, we report on the first evidence for revertant mosaicism in loricrin keratoderma (LK), an autosomal dominant form of ichthyosis caused by mutations in LO...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Life Science Alliance LLC
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362306/ https://www.ncbi.nlm.nih.gov/pubmed/30718378 http://dx.doi.org/10.26508/lsa.201800284 |