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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Med Genet
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Publishing Group 2020
Pynciau:
Genotype-Phenotype Correlations
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7231465/
https://ncbi.nlm.nih.gov/pubmed/31591141
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106299
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