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
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
Citation: Md. Amaral et al., Cystic fibrosis patients with the 3272-26A > G splicing mutation have milder disease than F508del homozygotes: a large European study, J MED GENET, 38(11), 2001, pp. 777-782
Authors:
Penque, D
Mendes, F
Beck, S
Farinha, C
Pacheco, P
Nogueira, P
Lavinha, J
Malho, R
Amaral, MD
Citation: D. Penque et al., Cystic fibrosis F508del patients have apically localized CFTR in a reducednumber of airway cells, LAB INV, 80(6), 2000, pp. 857-868
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
Citation: S. Beck et al., Cystic fibrosis patients with the 3272-26A -> G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane, HUM MUTAT, 14(2), 1999, pp. 133-144