Detection of APC mosaicism by next-generation sequencing in an FAP patient
Detection of APC mosaicism by next-generation sequencing in an FAP patient
About this item
Full title
Author / Creator
Yamaguchi, Kiyoshi , Komura, Mitsuhiro , Yamaguchi, Rui , Imoto, Seiya , Shimizu, Eigo , Kasuya, Shinichi , Shibuya, Tetsuo , Hatakeyama, Seira , Takahashi, Norihiko , Ikenoue, Tsuneo , Hata, Keisuke , Tsurita, Giichiro , Shinozaki, Masaru , Suzuki, Yutaka , Sugano, Sumio , Miyano, Satoru and Furukawa, Yoichi
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
Familial adenomatous polyposis (FAP) of the colon is characterized by multiple polyps in the intestine and extra-colonic manifestations. Most FAP cases are caused by a germline mutation in the tumor-suppressor gene APC, but some cases of adenomatous polyposis result from germline mutations in MUTYH, POLD1 or POLE. Although sequence analysis of APC...
Alternative Titles
Full title
Detection of APC mosaicism by next-generation sequencing in an FAP patient
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1701479083
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1701479083
Other Identifiers
ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/jhg.2015.14
