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R560S: A class II CFTR mutation that is not rescued by current modulators.
Awatade NT, Ramalho S, Silva IAL, Felício V, Botelho HM, de Poel E, Vonk A, Beekman JM, Farinha CM, Amaral MD. Awatade NT, et al. J Cyst Fibros. 2019 Mar;18(2):182-189. doi: 10.1016/j.jcf.2018.07.001. Epub 2018 Jul 18. J Cyst Fibros. 2019. PMID: 30030066 Free article.
Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles.
Terlizzi V, Castaldo G, Salvatore D, Lucarelli M, Raia V, Angioni A, Carnovale V, Cirilli N, Casciaro R, Colombo C, Di Lullo AM, Elce A, Iacotucci P, Comegna M, Scorza M, Lucidi V, Perfetti A, Cimino R, Quattrucci S, Seia M, Sofia VM, Zarrilli F, Amato F. Terlizzi V, et al. J Med Genet. 2017 Apr;54(4):224-235. doi: 10.1136/jmedgenet-2016-103985. Epub 2016 Oct 13. J Med Genet. 2017. PMID: 27738188 Free article.
PLCB3 Loss of Function Reduces Pseudomonas aeruginosa-Dependent IL-8 Release in Cystic Fibrosis.
Rimessi A, Bezzerri V, Salvatori F, Tamanini A, Nigro F, Dechecchi MC, Santangelo A, Prandini P, Munari S, Provezza L, Garreau de Loubresse N, Muller J, Ribeiro CMP, Lippi G, Gambari R, Pinton P, Cabrini G. Rimessi A, et al. Am J Respir Cell Mol Biol. 2018 Oct;59(4):428-436. doi: 10.1165/rcmb.2017-0267OC. Am J Respir Cell Mol Biol. 2018. PMID: 29668297