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APC transcription studies and molecular diagnosis of familial adenomatous polyposis

Familial adenomatous polyposis (FAP) is characterised by the development of hundreds to thousands of colorectal adenomas and results from inherited or somatic mosaic variants in the APC gene. Index patients with suspected FAP are usually investigated by APC coding region sequence and dosage analysis...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Short, Emma, Thomas, Laura E., Davies, Alice, Bolton, Alice, Maynard, Julie, Giles, Peter, Mort, Matthew, Consoli, Claudia, Egner, Iris, Jundi, Hala, Sampson, Julian R.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6906400/
https://ncbi.nlm.nih.gov/pubmed/31383941
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0486-2
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