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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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Bibliografische gegevens
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer Netherlands 2010
Onderwerpen:
Online toegang: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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