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Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients

BACKGROUND: Familial adenomatous polyposis, an autosomal dominant inherited disease caused by germline mutations within the APC gene, is characterized by early onset colorectal cancer as a consequence of the intrinsic phenotypic feature of multiple colorectal adenomatic polyps. The genetic investiga...

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Detalles Bibliográficos
Autores principales: Fostira, Florentia, Thodi, Georgia, Sandaltzopoulos, Raphael, Fountzilas, George, Yannoukakos, Drakoulis
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2918579/
https://www.ncbi.nlm.nih.gov/pubmed/20649969
http://dx.doi.org/10.1186/1471-2407-10-389