Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study
一项大型欧洲研究表明，携带 3272-26A>G 剪接突变的囊性纤维化患者的病情比 F508del 纯合子患者轻。
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg.38.11.777
Amaral, M D; Pacheco, P; Beck, S; Farinha, C M; Penque, D; Nogueira, P; Barreto, C; Lopes, B; Casals, T; Dapena, J; Gartner, S; Vásquez, C; Pérez-Frías, J; Olveira, C; Cabanas, R; Estivill, X; Tzetis, M; Kanavakis, E; Doudounakis, S; Dörk, T; Tümmler, B; Girodon-Boulandet, E; Cazeneuve, C; Goossens, M; Blayau, M; Verlingue, C; Vieira, I; Féréc, C; Claustres, M; des Georges, M; Clavel, C; Birembaut, P; Hubert, D; Bienvenu, T; Adoun, M; Chomel, J C; De Boeck, K; Cuppens, H; Lavinha, J
