Article
High incidence of the CFTR mutations 3272-26A-->G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A-->G, E588V, and 1671insTATCA).
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 30 Nov 2007
Storm Katrien, Moens Els, Vits Lieve, De Vlieger Haike, Delaere Gino, D'Hollander Maria, Wuyts Wim, Biervliet Martine, Van Schil Lutgardis, Desager Kristine, Nöthen Markus M
Abstract excerpt
We have analyzed 143 unrelated Belgian patients with a positive diagnosis of cystic fibrosis (CF) for mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. An initial screening for 29 CFTR mutations led to mutation identification in 89.9% of the tested chromosomes. Subsequently an extensive analysis of the CFTR gene was performed by denaturating gradient gel electrophoresis (DGGE) in...
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