Article
Simple method for haplotyping the poly(TG) repeat in individuals carrying the IVS8 5T allele in the CFTR gene.
Clinical chemistry - 1 Mar 2007
Mantovani Vilma, Garagnani Paolo, Selva Paola, Rossi Cesare, Ferrari Simona, Cenci Marinella, Calza Nilla, Cerreta Vincenzo, Luiselli Donata, Romeo Giovanni
Abstract excerpt
BACKGROUND: The 5T allele of the polyT tract located within intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is a variant that in trans with a severe CFTR mutation can result in normal phenotype, congenital bilateral absence of vas deferens (CBAVD), or mild cystic fibrosis. The 5T allele has been associated with the skipping of exon 9, a process that seems to be influenced by an...
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