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The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history

Classical familial adenomatous polyposis (FAP) is a high-penetrance autosomal dominant disease that predisposes to hundreds or thousands of colorectal adenomas and carcinoma and that results from truncating mutations in the APC gene. A variant of FAP is attenuated adenomatous polyposis coli, which r...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Principais autores: Frayling, Ian M., Beck, Nicholas E., Ilyas, Mohammad, Dove-Edwin, Isis, Goodman, Peter, Pack, Kevin, Bell, Jennifer A., Williams, Christopher B., Hodgson, Shirley V., Thomas, Huw J. W., Talbot, Ian C., Bodmer, Walter F., Tomlinson, Ian P. M.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 1998
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Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC27962/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/9724771/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.95.18.10722
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