| Autor: |
Katarzyna Klonowska, Joannes M. Grevelink, Krinio Giannikou, Barbara A. Ogorek, Zachary T. Herbert, Aaron R. Thorner, Thomas N. Darling, Joel Moss, David J. Kwiatkowski |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
The Journal of Clinical Investigation, Vol 132, Iss 10 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
1558-8238 |
| DOI: |
10.1172/JCI155858 |
| Popis: |
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 facial skin was performed.Methods A multiplex high-sensitivity PCR assay (MHPA) was developed, enabling mutation detection at extremely low ( |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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