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

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) gene lo...

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Detalles Bibliográficos
Autores principales: Giang, Hoa, Nguyen, Vu T, Nguyen, Sinh D, Nguyen, Huu-Phuc, Vo, Binh T, Nguyen, Truc M, Nguyen, Nguyen H, Truong, Kiet D, Do, Thanh-Thuy T, Phan, Minh-Duy, Nguyen, Hoai-Nghia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194589/
https://www.ncbi.nlm.nih.gov/pubmed/30340471
http://dx.doi.org/10.1186/s12881-018-0701-y

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