Article
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.
Human mutation - 1 Apr 2010
Quemener Sylvia, Chen Jian-Min, Chuzhanova Nadia, Bénech Caroline, Casals Teresa, Macek Milan, Bienvenu Thierry, McDevitt Trudi, Farrell Philip M, Loumi Ourida, Messaoud Taieb, Cuppens Harry, Cutting Garry R, Stenson Peter D, Giteau Karine, Audrézet Marie-Pierre, Cooper David N, Férec Claude
Abstract excerpt
Over the last 20 years since the discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, more than 1,600 different putatively pathological CFTR mutations have been identified. Until now, however, copy number mutations (CNMs) involving the CFTR gene have not been methodic...
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