Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end

Germline mutations of the APC gene, which encodes a multidomain protein of 2843 amino acid residues, cause familial adenomatous polyposis (FAP). Three FAP clinical variants are correlated with the location of APC mutations: (1) classic FAP with profuse polyposis (>1000 adenomas), associated with...

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Detalles Bibliográficos
Autores principales: Disciglio, Vittoria, Fasano, Candida, Cariola, Filomena, Forte, Giovanna, Grossi, Valentina, Sanese, Paola, Lepore Signorile, Martina, Resta, Nicoletta, Lotesoriere, Claudio, Stella, Alessandro, Lolli, Ivan, Simone, Cristiano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2020
Materias:
Genotype-Phenotype Correlations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7231465/
https://www.ncbi.nlm.nih.gov/pubmed/31591141
http://dx.doi.org/10.1136/jmedgenet-2019-106299

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7231465/
https://www.ncbi.nlm.nih.gov/pubmed/31591141
http://dx.doi.org/10.1136/jmedgenet-2019-106299

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