Article
Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2015
Bonini Jennifer, Varilh Jessica, Raynal Caroline, Thèze Corinne, Beyne Emmanuelle, Audrezet Marie-Pierre, Ferec Claude, Bienvenu Thierry, Girodon Emmanuelle, Tuffery-Giraud Sylvie, Des Georges Marie, Claustres Mireille, Taulan-Cadars Magali
Abstract excerpt
PURPOSE: Although 97-99% of CFTR mutations have been identified, great efforts must be made to detect yet-unidentified mutations. METHODS: We developed a small-scale next-generation sequencing approach for reliably and quickly scanning the entire gene, including noncoding regions, to identify new mutations. We applied this approach to 18 samples from patients suffering from cystic fibrosis (CF) in whom only one...
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