A novel APC mosaicism in a patient with familial adenomatous polyposis

Using next-generation sequencing (NGS) to analyze a patient with sporadic familial adenomatous polyposis in whom no APC mutations were found by Sanger sequencing, we identified a novel APC mosaicism at a spliced donor site (c.834+2 T>C) in his leukocytes, normal colonic mucosa and adenoma. The de...

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Dettagli Bibliografici
Pubblicato in:Hum Genome Var
Autori principali: Iwaizumi, Moriya, Tao, Hong, Yamaguchi, Kiyoshi, Yamada, Hidetaka, Shinmura, Kazuya, Kahyo, Tomoaki, Yamanaka, Yoshiyuki, Kurachi, Kiyotaka, Sugimoto, Ken, Furukawa, Yoichi, Sugimura, Haruhiko
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2015
Soggetti:
Data Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785584/
https://ncbi.nlm.nih.gov/pubmed/27081559
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.57
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