Clinical characteristics of rare CFTR mutations causing cystic fibrosis in Polish population.
Katarzyna ZybertLukasz WozniackiAgnieszka Tomaszewska-SobczyńskaKatarzyna Wertheim-TysarowskaKamila CzerskaMariusz OłtarzewskiDorota SandsPublished in: Pediatric pulmonology (2020)
Pathogenic mutations are H199R, L468P, A1217E, Q359R, T1036I, W1282R, R289NfsX17, I618RfsX2, T682KfsX40, S1347PfsX13, W356X, E33X, dup.16,17A. Every patient with a mutation of unknown clinical consequences in one CFTR allele requires attentive follow-up.