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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...
Autores principales: | Ma, De-Jian, Wang, Bi-Shi, Yue, Jin-Bo, Li, Zeng-Jun, Sun, Yan-Lai |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove Medical Press
2018
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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 |
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