Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis

BACKGROUND: Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary disease characterized by multiple colorectal adenomatous polyps and frequent extracolonic manifestations. An attenuated form of FAP (AFAP) is diagnosed based on a milder colorectal phenotype, and the colorectal phen...

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Detalles Bibliográficos
Autores principales: Tao, Hong, Shinmura, Kazuya, Yamada, Hidetaka, Maekawa, Masato, Osawa, Satoshi, Takayanagi, Yasuhiro, Okamoto, Kazuya, Terai, Tomohiro, Mori, Hiroki, Nakamura, Toshio, Sugimura, Haruhiko
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2994888/
https://www.ncbi.nlm.nih.gov/pubmed/21078199
http://dx.doi.org/10.1186/1756-0500-3-305

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