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Patients develop cystic fibrosis because of a variety of homozygous recessive mutations , including single nucleotide polymorphisms , insertions , and deletions, in the cystic fibrosis transmembrane regulator (CFTR) gene , or because of compound heterozygosity for two mutations in the CFTR gene. A false determination of homozygosity for a particular CFTR mutation could negatively affect both carrier screens for a patient's family as well as researchers' ability to study the physiologicaldoi:10.2353/jmoldx.2009.080117 pmid:19324987 pmcid:PMC2671343 fatcat:4eq33pol6rca3cvhvspo7zz32q