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

Fiche publication


Date publication

novembre 2001

Journal

Journal of medical genetics

Auteurs

Membres identifiés du Cancéropôle Est :
Pr CLAVEL Christine


Tous les auteurs :
Amaral MD, Pacheco P, Beck S, Farinha CM, 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 JC, De Boeck K, Cuppens H, Lavinha J

Mots clés

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

Référence

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