Article
Clinical characteristics and genetic analysis of cystic fibrosis transmembrane conductance reseptor-related disease.
Pediatrics international : official journal of the Japan Pediatric Society - 1 May 2020
Kilinc Ayse Ayzit, Alishbayli Gulizar, Taner Hasan Emir, Cokugras Fugen Cullu, Cokugras Haluk
Abstract excerpt
BACKGROUND: Cystic fibrosis (CF) transmembrane conductance receptor (CFTR)-related disease is diagnosed in patients affected by CFTR dysfunction who do not fully meet the CF diagnostic criteria. Only 2% of all CF patients have CFTR-related disease. We define the demographic characteristics of such patients, described the performance of mutational analyses, and describe the clinical findings. METHODS: Twenty-four...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.