High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations

Familial adenomatous polyposis is most frequently caused by pathogenic variants in either the APC gene or the MUTYH gene. The detection rate of pathogenic variants depends on the severity of the phenotype and sensitivity of the screening method, including sensitivity for mosaic variants. For 171 pat...

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Detalhes bibliográficos
Publicado no:Fam Cancer
Main Authors: Out, Astrid A., van Minderhout, Ivonne J. H. M., van der Stoep, Nienke, van Bommel, Lysette S. R., Kluijt, Irma, Aalfs, Cora, Voorendt, Marsha, Vossen, Rolf H. A. M., Nielsen, Maartje, Vasen, Hans F. A., Morreau, Hans, Devilee, Peter, Tops, Carli M. J., Hes, Frederik J.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Netherlands 2015
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4430602/
https://ncbi.nlm.nih.gov/pubmed/25604157
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10689-015-9780-5
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