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TÃTULO: The human DnaJ homologue (Hdj)-l/heat-shock protein (Hsp) 40 co-chaperone is required for the in vivo stabilization of the cystic fibrosis transmembrane conductance regulator by Hsp70
AUTORES: Farinha, CM ; Nogueira, P; Mendes, F ; Penque, D ; Amaral, MD ;
PUBLICAÇÃO: 2002, FONTE: BIOCHEMICAL JOURNAL, VOLUME: 366, NÚMERO: 3

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TÃTULO: Cystic fibrosis patients with the 3272-26A > G splicing mutation have milder disease than F508del homozygotes: a large European study
AUTORES: 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; Tummler, B; Girodon Boulandet, E; Cazeneuve, C; Goossens, M; Blayau, M; Verlingue, C; Vieira, I; Ferec, C; Claustres, M; des Georges, M; Clavel, C; Birembaut, P; Hubert, D; Bienvenu, T; Adoun, M; Chomel, JC; De Boeck, K; Cuppens, H; Lavinha, J; ...Mais
PUBLICAÇÃO: 2001, FONTE: JOURNAL OF MEDICAL GENETICS, VOLUME: 38, NÚMERO: 11

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TÃTULO: Cystic fibrosis F508del patients have apically localized CFTR in a reduced number of airway cells
AUTORES: Penque, D ; Mendes, F ; Beck, S; Farinha, C ; Pacheco, P; Nogueira, P; Lavinha, J; Malho, R ; Amaral, MD ;
PUBLICAÇÃO: 2000, FONTE: LABORATORY INVESTIGATION, VOLUME: 80, NÚMERO: 6

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TÃTULO: 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
AUTORES: 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 ;
PUBLICAÇÃO: 1999, FONTE: Human Mutation, VOLUME: 14, NÚMERO: 2

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TÃTULO: Cystic Fibrosis: cellular characterization of A561E Portuguese mutation Full Text
AUTORES: Penque, D; Gomes, A; Mock, M; Farinha, C ; Malho, R ; Demolombe, S; Escande, D; Lavinha, J; Amaral, MD;
PUBLICAÇÃO: 1998, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 6

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TÃTULO: Molecular and cellular effects of the Cystic Fibrosis splicing mutation 3272-26A(r)G in nasal polyps, primary cultures and lymphocytes Full Text
AUTORES: Garcia, S; Penque, D; Duarte, A; Farinha, C ; Gomes, A; Mata, L; Gulbenkian, S; Gil Ferreira, K; Pacheco, P; Lavinha, J; Margarida, A;
PUBLICAÇÃO: 1998, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 6

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TÃTULO: The natural stress protectant trehalose alters intracellular localization of mutant CFTR protein Full Text
AUTORES: Amaral, M; Penque, D; Farinha, C ; Gomes, A; Alves, P; Lavinha, J;
PUBLICAÇÃO: 1998, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 6

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