Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study.

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

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.

J Med Genet ; 38(11): 777-83, 2001 Nov.

Article in En | MEDLINE | ID: mdl-11732487

Subject(s)

Alternative Splicing/genetics; Cystic Fibrosis Transmembrane Conductance Regulator/genetics; Cystic Fibrosis/genetics; Sequence Deletion/genetics; Alleles; Cystic Fibrosis/pathology; DNA/chemistry; DNA/genetics; DNA Mutational Analysis; Europe; Female; Genotype; Haplotypes; Homozygote; Humans; Male; Phenotype; Point Mutation; Severity of Illness Index

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sequence Deletion / Alternative Splicing / Cystic Fibrosis Transmembrane Conductance Regulator / Cystic Fibrosis Limits: Female / Humans / Male Country/Region as subject: Europa Language: En Journal: J Med Genet Year: 2001 Type: Article

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