Article
Identification of an 11T allele in the polypyrimidine tract of intron 8 of the CFTR gene.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2006
Kobler Daniel, Modi Hemanshu, Goldman Barbara
Abstract excerpt
PURPOSE: Most of the kits or reagents available for testing for mutations in the cystic fibrosis transmembrane conductance regulator gene include testing for the 5/7/9T polypyrimidine tract, but these methods only screen for three variants in this region: 5T, 7T, and 9T. Although such commercial products may not have been designed to screen for rare alleles of the polypyrimidine tract, we demonstrate that at...
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