Article
Targeted next-generation sequencing effectively analyzed the cystic fibrosis transmembrane conductance regulator gene in pancreatitis.
Digestive diseases and sciences - 1 May 2015
Nakano Eriko, Masamune Atsushi, Niihori Tetsuya, Kume Kiyoshi, Hamada Shin, Aoki Yoko, Matsubara Yoichi, Shimosegawa Tooru
Abstract excerpt
BACKGROUND: The cystic fibrosis transmembrane conductance regulator (CFTR) gene, responsible for the development of cystic fibrosis, is known as a pancreatitis susceptibility gene. Direct DNA sequencing of PCR-amplified CFTR gene segments is a first-line method to detect unknown mutations, but it is a tedious and labor-intensive endeavor given the large size of the gene (27 exons, 1,480 amino acids)....
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