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Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?

BACKGROUND: Familial adenomatous polyposis (FAP) is an autosomal dominant-inherited colorectal cancer syndrome, caused by germline mutations in the APC gene. Recently, biallelic mutations in MUTYH have also been identified in patients with multiple colorectal adenomas and in APC-negative patients wi...

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Autors principals: Gómez-Fernández, Nuria, Castellví-Bel, Sergi, Fernández-Rozadilla, Ceres, Balaguer, Francesc, Muñoz, Jenifer, Madrigal, Irene, Milà, Montserrat, Graña, Begoña, Vega, Ana, Castells, Antoni, Carracedo, Ángel, Ruiz-Ponte, Clara
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2009
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2702373/
https://ncbi.nlm.nih.gov/pubmed/19531215
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-10-57
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