Investigating CFTR gene variations in patient groups with positive newborn screening test results and preliminary clinical diagnosis of cystic fibrosis in the eastern anatolia region of Turkey

Investigating CFTR gene variations in patient groups with positive newborn screening test results and preliminary clinical diagnosis of cystic fibrosis in the eastern anatolia region of Turkey

Cystic fibrosis (CF, OMIM: #219700), caused by biallelic pathogenic variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, is the most common monogenic disease. The present study aimed to investigate CFTR gene variations in patients with a positive screening test result f...

Full description

Bibliographic Details
Main Authors: Ayberk Turkyilmaz, Oguzhan Yarali
Format: Article
Language:English
Published: Society of TURAZ AKADEMI 2021-06-01
Series:Medicine Science
Subjects:
cftr
newborn screening
immunoreactive trypsinogen
sweat test
Online Access:http://www.ejmanager.com/fulltextpdf.php?mno=21432

Internet

http://www.ejmanager.com/fulltextpdf.php?mno=21432

Similar Items