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...

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Detalles Bibliográficos
Autores principales: Suzuki, Shotaro, Nomura, Toshifumi, Miyauchi, Toshinari, Takeda, Masae, Fujita, Yasuyuki, Nishie, Wataru, Akiyama, Masashi, Ishida-Yamamoto, Akemi, Shimizu, Hiroshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Life Science Alliance LLC 2019
Materias:
Research Articles
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

Internet

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

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