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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...

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Bibliografiske detaljer
Main Authors: 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
Sprog:Inglês
Udgivet: Springer Netherlands 2010
Fag:
Online adgang: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
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