Article
Lung disease associated with the IVS8 5T allele of the CFTR gene.
American journal of respiratory and critical care medicine - 1 Nov 2000
Noone P G, Pue C A, Zhou Z, Friedman K J, Wakeling E L, Ganeshananthan M, Simon R H, Silverman L M, Knowles M R
Abstract excerpt
Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane regulator (CFTR) gene. The 5T allele in intron 8 (IVS8) causes abnormal splicing in the CFTR gene, and is associated with lung disease when it occurs in cis with a missense mutation in the CFTR gene, R117H. However, the 5T variant alone has not been reported to cause lung disease. We describe two adult female patients with CF-like lung...
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