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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 Nguyen
Published 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.
Keyphrases
  • early onset
  • single cell
  • dna repair
  • cancer therapy
  • sensitive detection