Article
Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms.
Human mutation - 1 Apr 2004
Audrézet Marie-Pierre, Chen Jian-Min, Raguénès Odile, Chuzhanova Nadia, Giteau Karine, Le Maréchal Cédric, Quéré Isabelle, Cooper David N, Férec Claude
Abstract excerpt
Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR/ABCC7). Despite the extensive and enduring efforts of many CF researchers over the past 14 years, up to 30% of disease alleles still remain to be identified in some populations. It has long been suggested that gross genomic rearrangements could account for these unidentified alleles. To date, however,...
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