Detection of a heterozygous germline APC mutation in a three-generation family with familial adenomatous polyposis using targeted massive parallel sequencing in Vietnam

Detection of a heterozygous germline APC mutation in a three-generation family with familial adenomatous polyposis using targeted massive parallel sequencing in Vietnam

Abstract Background Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary syndrome characterised by the development of hundreds to thousands of adenomatous colonic polyps during the second decade of life. FAP is caused by germ line mutations in the adenomatous polyposis coli (APC)...

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Bibliographic Details
Main Authors: Hoa Giang, Vu T Nguyen, Sinh D Nguyen, Huu-Phuc Nguyen, Binh T Vo, Truc M Nguyen, Nguyen H Nguyen, Kiet D Truong, Thanh-Thuy T Do, Minh-Duy Phan, Hoai-Nghia Nguyen
Format: Article
Language:English
Published: BMC 2018-10-01
Series:BMC Medical Genetics
Subjects:
Familial adenomatous polyposis
APC gene
Germline mutation
Genetic testing
Massively parallel sequencing
Online Access:http://link.springer.com/article/10.1186/s12881-018-0701-y

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http://link.springer.com/article/10.1186/s12881-018-0701-y

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