Analysis of Rare APC Variants at the mRNA Level: Six Pathogenic Mutations and Literature Review

In monogenic disorders, the functional evaluation of rare, unclassified variants helps to assess their pathogenic relevance and can improve differential diagnosis and predictive testing. We characterized six rare APC variants in patients with familial adenomatous polyposis at the mRNA level. APC var...

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Detalhes bibliográficos
Principais autores: Kaufmann, Astrid, Vogt, Stefanie, Uhlhaas, Siegfried, Stienen, Dietlinde, Kurth, Ingo, Hameister, Horst, Mangold, Elisabeth, Kötting, Judith, Kaminsky, Elke, Propping, Peter, Friedl, Waltraut, Aretz, Stefan
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2009
Assuntos:
Regular Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2665862/
https://ncbi.nlm.nih.gov/pubmed/19196998
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2009.080129
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