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Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis
Pathogenic mutations in CYLD can be identified in patients affected with Brooke-Spiegler syndrome, (Familial) Cylindromatosis or multiple familial trichoepithelioma. To date, only technologies which are able to identify small point mutations in CYLD, such as sequence and WAVE analysis, were used. He...
| Autores principales: | , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Springer Netherlands
2010
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3036809/ https://www.ncbi.nlm.nih.gov/pubmed/20972631 http://dx.doi.org/10.1007/s10689-010-9393-y |