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

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 smal...

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Bibliographic Details
Main Authors: Giovanna D’Elia, Gemma Caliendo, Amelia Casamassimi, Michele Cioffi, Anna Maria Molinari, Maria Teresa Vietri
Format: Article
Language:English
Published: MDPI AG 2018-06-01
Series:Genes
Subjects:
familial adenomatous polyposis
APC gene
MUTYH gene
mutational analysis
genotype-phenotype correlation
familial cancer
extracolonic manifestation
Online Access:http://www.mdpi.com/2073-4425/9/7/322

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http://www.mdpi.com/2073-4425/9/7/322

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