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...

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Detalles Bibliográficos
Autores principales: van den Ouweland, Ans M. W., Elfferich, Peter, Lamping, Roy, van de Graaf, Raoul, van Veghel-Plandsoen, Monique M., Franken, S. M., Houweling, A. C.
Formato: Texto
Lenguaje:English
Publicado: Springer Netherlands 2010
Materias:
Article
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

Internet

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

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