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Frameshift mutation
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===Cystic fibrosis=== [[Cystic fibrosis]] (CF) is a disease based on mutations in the CF [[transmembrane]] conductance regulator (CFTR) gene. There are over 1500 mutations identified, but not all cause the disease.<ref name="guidelines for CF">{{cite journal|vauthors=Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, Durie PR, Legrys VA, Massie J, Parad RB, Rock MJ, Campbell PW |title=Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report|journal=The Journal of Pediatrics|volume=153|issue=2|pages=S4βS14|doi=10.1016/j.jpeds.2008.05.005 |pmid=18639722 |pmc=2810958 |year=2008}}</ref> Most cases of cystic fibrosis are a result of the βF508 mutation, which deletes the entire amino acid. Two frameshift mutations are of interest in diagnosing CF, CF1213delT and CF1154-insTC. Both of these mutations commonly occur in tandem with at least one other mutation. They both lead to a small decrease in the function of the [[lungs]] and occur in about 1% of patients tested. These mutations were identified through Sanger sequencing.<ref name="frameshift mutations in CF">{{cite journal|last=Iannuzzi|first=MC|author2=Stern, RC|author3=Collins, FS|author4=Hon, CT|author5=Hidaka, N|author6=Strong, T|author7=Becker, L|author8=Drumm, ML|author9=White, MB|author10= Gerrard, B|title=Two frameshift mutations in the cystic fibrosis gene.|journal=American Journal of Human Genetics|date=February 1991|volume=48|issue=2|pages=227β31|pmid=1990834|pmc=1683026}}</ref>
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