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c.1439delA frameshift deletion mutation in familial adenomatous polyposis

Familial adenomatous polyposis (FAP) is a rare autosomal dominant genetic disease related to germline mutations of the APC gene. The clinical features of this disease most commonly include hundreds of adenomas or polyps. If not treated in a timely fashion, FAP can eventually result in colorectal car...

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Detalles Bibliográficos
Autores principales: Ma, De-Jian, Wang, Bi-Shi, Yue, Jin-Bo, Li, Zeng-Jun, Sun, Yan-Lai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6294057/
https://www.ncbi.nlm.nih.gov/pubmed/30588011
http://dx.doi.org/10.2147/OTT.S183153