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Portuguese Recommendations for the use of biological therapies in patients with...

Duarte, C.; Sousa-Neves, J.; Águeda, A.; Ribeiro, P.; Daniel, A.; Eugénio, G.; Serra, S.; Araújo, F.; Barcelos, A.; Filipe, B.; Bernardes, M.

Date: 2017   |   Origin: Egas Moniz - Cooperativa de Ensino Superior, CRL
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Distinct spectrum of apc germline mutations in familial adenomatous polyposis a...

Filipe, B.; Claro, I.; Lage, P.; Ferreira, S.; Rosa, I.; Rodrigues, P.; Spier, I.; Theisen, Patrícia; Pereira-Caetano, Iris; Isidro, Glória

Introduction: Familial adenomatous polyposis (FAP) is caused by APC germline mutations. These have been reported in classic and attenuated FAP (AFAP) but only two hotspots were described (codons 1309 and 1061-range:0-15%). We aimed to characterize the APC mutation spectrum in a FAP/AFAP population from the familial polyposis registry of the Portuguese Oncology Institute in Lisbon. Methods: We performed mutation...

Date: 2014   |   Origin: Repositório Científico do Instituto Nacional de Saúde
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