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Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families

BACKGROUND: The dominantly inherited condition familial adenomatous polyposis (FAP) is caused by germline mutations in the APC gene. Finding the causative mutations has great implications for the families. Correlating the genotypes to the phenotypes could help to improve the diagnosis and follow-up...

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Detalles Bibliográficos
Autores principales: Kanter-Smoler, Gunilla, Fritzell, Kaisa, Rohlin, Anna, Engwall, Yvonne, Hallberg, Birgitta, Bergman, Annika, Meuller, Johan, Grönberg, Henrik, Karlsson, Per, Björk, Jan, Nordling, Margareta
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2386495/
https://www.ncbi.nlm.nih.gov/pubmed/18433509
http://dx.doi.org/10.1186/1741-7015-6-10