Article
Clinical characteristics of rare CFTR mutations causing cystic fibrosis in Polish population.
Pediatric pulmonology - 1 Aug 2020
Zybert Katarzyna, Wozniacki Lukasz, Tomaszewska-Sobczyńska Agnieszka, Wertheim-Tysarowska Katarzyna, Czerska Kamila, Ołtarzewski Mariusz, Sands Dorota
Abstract excerpt
INTRODUCTION: More than 2000 mutations have been identified since the discovery of the CFTR gene in 1989. However, only 346 mutations have been classified as cystic fibrosis (CF)-causing mutations. Due to the increasing number of mutations and poor correlation between the genotype and phenotype, there is an urgent need to determine the mutations that are pathogenic, nonpathogenic, or lead to variable symptoms....
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