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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
INDEXED IN: Scopus CrossRef: 49
IN MY: ORCID
42
TITLE: Cystic Fibrosis: cellular characterization of A561E Portuguese mutation  Full Text
AUTHORS: Penque, D; Gomes, A; Mock, M; Farinha, C ; Malho, R ; Demolombe, S; Escande, D; Lavinha, J; Amaral, MD;
PUBLISHED: 1998, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 6
INDEXED IN: WOS
43
TITLE: Molecular and cellular effects of the Cystic Fibrosis splicing mutation 3272-26A(r)G in nasal polyps, primary cultures and lymphocytes  Full Text
AUTHORS: Garcia, S; Penque, D; Duarte, A; Farinha, C ; Gomes, A; Mata, L; Gulbenkian, S; Gil Ferreira, K; Pacheco, P; Lavinha, J; Margarida, A;
PUBLISHED: 1998, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 6
INDEXED IN: WOS
44
TITLE: The natural stress protectant trehalose alters intracellular localization of mutant CFTR protein  Full Text
AUTHORS: Amaral, M; Penque, D; Farinha, C ; Gomes, A; Alves, P; Lavinha, J;
PUBLISHED: 1998, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 6
INDEXED IN: WOS
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