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Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex
BACKGROUND: Tuberous sclerosis complex (TSC) is a neurogenetic syndrome due to loss-of-function mutations in TSC2 or TSC1, characterized by tumors at multiple body sites, including facial angiofibroma (FAF). Here, an ultrasensitive assessment of the extent and range of UV-induced mutations in TSC fa...
Autores principales: | Klonowska, Katarzyna, Grevelink, Joannes M., Giannikou, Krinio, Ogorek, Barbara A., Herbert, Zachary T., Thorner, Aaron R., Darling, Thomas N., Moss, Joel, Kwiatkowski, David J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Society for Clinical Investigation
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9106361/ https://www.ncbi.nlm.nih.gov/pubmed/35358092 http://dx.doi.org/10.1172/JCI155858 |
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