Mutational spectrum of the APC and MUTYH genes and genotype–phenotype correlations in Brazilian FAP, AFAP, and MAP patients

BACKGROUND: Patients with multiple colorectal adenomas are currently screened for germline mutations in two genes, APC and MUTYH. APC-mutated patients present classic or attenuated familial adenomatous polyposis (FAP/AFAP), while patients carrying biallelic MUTYH mutations exhibit MUTYH-associated p...

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Main Authors: Torrezan, Giovana Tardin, da Silva, Felipe Cavalcanti Carneiro, Santos, Érika Maria Monteiro, Krepischi, Ana Cristina Victorino, Achatz, Maria Isabel Waddington, Junior, Samuel Aguiar, Rossi, Benedito Mauro, Carraro, Dirce Maria
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2013
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Research
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3623842/
https://ncbi.nlm.nih.gov/pubmed/23561487
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-54
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