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Noun1.CFTR - the gene that is mutated in cystic fibrosis
mutant gene - a gene that has changed so that the normal transmission and expression of a trait is affected
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References in periodicals archive ?
This interface region seems to be a hot-spot for structural stability, proper folding, and assembly of different ABC transporters including CFTR (ABCC7) and multidrug resistance proteins (MRPs) and furthermore a location enriched in disease-causing mutations [6,18,25,26].
For MRP1 stable expression cells, plasmid AfiCCJ/pKAlU5 cDNA was digested with Notl and EcoRI, and the ABCC7 cDNA fragment was ligated into pET-20b(+).
Cystic fibrosis (CF; MIM # 219700) is caused by mutations in the gene encoding the chloride channel--Cystic Fibrosis trans-membrane conductance regulator (CFTR; #602421) (1-3)--the seventh member of the C subfamily of the ATP-binding cassette (ABC) transporter gene super family (ABCC7) (4).