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APC and MUTYH Analysis in FAP Patients: A Novel Mutation in APC Gene and Genotype-Phenotype Correlation

APC and MUTYH genes are mutated in 70–90% and 10–30% of familial adenomatous polyposis cases (FAP) respectively. An association between mutation localization and FAP clinical phenotype is reported. The aims of this study were to determine APC and MUTYH mutational status in a small cohort of FAP pati...

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Detalles Bibliográficos
Autores principales: D’Elia, Giovanna, Caliendo, Gemma, Casamassimi, Amelia, Cioffi, Michele, Molinari, Anna Maria, Vietri, Maria Teresa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6071208/
https://www.ncbi.nlm.nih.gov/pubmed/29954149
http://dx.doi.org/10.3390/genes9070322