Genetics of Cystic Fibrosis Clinical Implications
Egan ME. Genetics of Cystic Fibrosis Clinical Implications. Clinics In Chest Medicine 2015, 37: 9-16. PMID: 26857764, DOI: 10.1016/j.ccm.2015.11.002.Peer-Reviewed Original ResearchConceptsCystic fibrosis transmembrane conductance regulator (CFTR) proteinMutant cystic fibrosis transmembrane conductance regulator (CFTR) proteinRegulator proteinMutational classesModifier genesFunctional consequencesCFTR functionCFTR geneRecessive genetic disorderRespiratory phenotypeGenesSpecific CF genotypesAutosomal recessive genetic disorderGenetic disordersCFTR genotypeCystic fibrosisGenotypesGeneticsProteinCF genotypeMutationsPhenotypeNew therapiesVariants