Bruno Filipe Lopes dos Santos
AuthID: R-000-2TR
71
TITLE: Cystic fibrosis patients with the 3272-26A > G splicing mutation have milder disease than F508del homozygotes: a large European study
AUTHORS: Amaral, MD ; Pacheco, P; Beck, S; Farinha, CM ; Penque, D ; Nogueira, P; Barreto, C; Lopes, B; Casals, T; Dapena, J; Gartner, S; Vasquez, C; Perez Frias, J; Olveira, C; Cabanas, R; Estivill, X; Tzetis, M; Kanavakis, E; Doudounakis, S; Dork, T; ...More
PUBLISHED: 2001, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 38, ISSUE: 11
AUTHORS: Amaral, MD ; Pacheco, P; Beck, S; Farinha, CM ; Penque, D ; Nogueira, P; Barreto, C; Lopes, B; Casals, T; Dapena, J; Gartner, S; Vasquez, C; Perez Frias, J; Olveira, C; Cabanas, R; Estivill, X; Tzetis, M; Kanavakis, E; Doudounakis, S; Dork, T; ...More
PUBLISHED: 2001, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 38, ISSUE: 11
72
TITLE: Cystic fibrosis patients with the 3272-26A -> G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane Full Text
AUTHORS: Beck, S; Penque, D ; Garcia, S; Gomes, A ; Farinha, C ; Mata, L; Gulbenkian, S; Gil Ferreira, K; Duarte, A; Pacheco, P; Barreto, C; Lopes, B; Cavaco, J ; Lavinha, J; Amaral, MD ;
PUBLISHED: 1999, SOURCE: HUMAN MUTATION, VOLUME: 14, ISSUE: 2
AUTHORS: Beck, S; Penque, D ; Garcia, S; Gomes, A ; Farinha, C ; Mata, L; Gulbenkian, S; Gil Ferreira, K; Duarte, A; Pacheco, P; Barreto, C; Lopes, B; Cavaco, J ; Lavinha, J; Amaral, MD ;
PUBLISHED: 1999, SOURCE: HUMAN MUTATION, VOLUME: 14, ISSUE: 2
