학술논문
Whole-Gene Sequencing of Reveals a High Prevalence of the Intronic Variant c.3874-4522A>G in Cystic Fibrosis.
Document Type
letter
Author
Source
American Journal of Respiratory & Critical Care Medicine; 6/1/2020, Vol. 201 Issue 11, p1438-1441, 4p
Subject
Language
ISSN
1073449X
Abstract
The article looks at a study which highlights the importance of intronic variants of cystic fibrosis transmembrane conductance regulator (CFTR) gene which is responsible for cystic fibrosis (CF). It mentions targeted mutation analysis (TMA) is usually performed using one of many commercially available kits and using next generation sequencing (NGS) of the whole CFTR gene. It also mentions extensive bronchiectasis and impaired lung function.