Detection of a heterozygous germline APC mutation in a three-generation family with familial adenomatous polyposis using targeted massive parallel sequencing in Vietnam.
Hoa GiangVu T NguyenSinh D NguyenHuu-Phuc NguyenBinh T VoTruc M NguyenNguyen H NguyenKiet D TruongThanh-Thuy T DoMinh-Duy PhanHoai-Nghia NguyenPublished in: BMC medical genetics (2018)
We reported here for the first time the use of massively parallel sequencing (MPS)-based genetic testing to identify a germline mutation within a three-generation Vietnamese family. This mutation is most likely responsible for the development of FAP.