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Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis

BACKGROUND: Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumor characterized by numerous adenomatous colonic polyps that often lead to colon cancer. Although most patients with FAP harbored germline mutations in APC gene, it was recently recognized that patients with clin...

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Detalles Bibliográficos
Autores principales: Kim, Borahm, Won, Dongju, Jang, Mi, Kim, Hoguen, Choi, Jong Rak, Kim, Tae Il, Lee, Seung-Tae
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6610853/
https://www.ncbi.nlm.nih.gov/pubmed/31269945
http://dx.doi.org/10.1186/s12920-019-0553-0