Article
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland.
Human mutation - 1 Jul 2003
Scotet Virginie, Barton David E, Watson James B G, Audrézet Marie-Pierre, McDevitt Trudi, McQuaid Shirley, Shortt Cathy, De Braekeleer Marc, Férec Claude, Le Maréchal Cédric
Abstract excerpt
This study aims to compare the spectrum of the mutations identified in the gene responsible for cystic fibrosis in three cohorts of patients of Celtic origin from Brittany and Ireland. It included 389 patients from Brittany, 631 from Dublin and 139 from Cork. The CFTR gene analysis relied on the detection of the most common mutations, followed by a complete gene scanning using DGGE or D-HPLC. High mutation...
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