Carregant...

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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Springer Netherlands 2010
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3036809/
https://ncbi.nlm.nih.gov/pubmed/20972631
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10689-010-9393-y
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!