Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti

Widespread reversion of genetic disease is rare; however, such events are particularly evident in some skin disorders in which normal clones develop on a background of affected skin. We previously demonstrated that mutations in keratin 10 (KRT10) cause ichthyosis with confetti (IWC), a severe domina...

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Publicat a:J Clin Invest
Autors principals: Choate, Keith A., Lu, Yin, Zhou, Jing, Elias, Peter M., Zaidi, Samir, Paller, Amy S., Farhi, Anita, Nelson-Williams, Carol, Crumrine, Debra, Milstone, Leonard M., Lifton, Richard P.
Format: Artigo
Idioma:Inglês
Publicat: American Society for Clinical Investigation 2015
Matèries:
Brief Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4396494/
https://ncbi.nlm.nih.gov/pubmed/25774499
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI64415
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