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
Lien Pubmed
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