Article
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms.
European journal of human genetics : EJHG - 1 May 2006
Férec Claude, Casals Teresa, Chuzhanova Nadia, Macek Milan, Bienvenu Thierry, Holubova Andrea, King Caitriona, McDevitt Trudi, Castellani Carlo, Farrell Philip M, Sheridan Molly, Pantaleo Sarah-Jane, Loumi Ourida, Messaoud Taieb, Cuppens Harry, Torricelli Francesca, Cutting Garry R, Williamson Robert, Ramos Maria Jesus Alonso, Pignatti Pier Franco, Raguénès Odile, Cooper David N, Audrézet Marie-Pierre, Chen Jian-Min
Abstract excerpt
Gross genomic rearrangements involving deletions in the CFTR gene have recently been found to account for approximately 20% of unidentified cystic fibrosis (CF) chromosomes in both French and Italian patients. Using QMPSF and walking quantitative DHPLC, six novel mutations (three simple deletions, two complex deletions with short insertions of 3-6 bp, and a complex deletion with a 182 bp inverted downstream...
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