Article
Reversal of cystic fibrosis phenotype in a cultured Delta508 cystic fibrosis transmembrane conductance regulator cell line by oligonucleotide insertion.
Proceedings of the National Academy of Sciences of the United States of America - 25 May 2004
Zamecnik Paul C, Raychowdhury Malay K, Tabatadze David R, Cantiello Horacio F
Abstract excerpt
Cystic fibrosis (CF) is a lethal genetic disorder that is due to mutations in the gene encoding the cAMP-activated anion CF transmembrane conductance regulator (CFTR) channel. A three-nucleotide base deletion (TTT), encoding phenylalanine in position 508 of the translatable CFTR sequence (accompanied by a C to T replacement immediately 5' to the deletion), accounts for approximately 75% of cases of the disease....
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