Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10

Somatic loss of wild-type alleles can produce disease traits such as neoplasia. Conversely, somatic loss of disease-causing mutations can revert phenotypes, however these events are infrequently observed. We demonstrate that ichthyosis with confetti, a severe, sporadic skin disease, is associated wi...

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Bibliografiske detaljer
Main Authors: Choate, Keith A., Lu, Yin, Zhou, Jing, Choi, Murim, Elias, Peter M., Farhi, Anita, Nelson-Williams, Carol, Crumrine, Debra, Williams, Mary L., Nopper, Amy J., Bree, Alanna, Milstone, Leonard M., Lifton, Richard P.
Format: Artigo
Sprog:Inglês
Udgivet: 2010
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3085938/
https://ncbi.nlm.nih.gov/pubmed/20798280
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.1192280
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