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Two frameshift mutations in the cystic fibrosis gene |
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| Authors: | Michael C Iannuzzi Robert C Stern Francis S Collins Catherine Tom Hon Noriko Hidaka Theresa Strong Lisa Becker Mitchell L Drumm Marga B White Bernard Gerrard and Michael Dean |
| Institution: | Department of Internal Medicine, University of Michigan, Ann Arbor. |
| Abstract: | Cystic fibrosis (CF) is a recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. We have identified in exon 7 two frameshift mutations, one caused by a two-nucleotide insertion and the other caused by a one-nucleotide deletion; these mutations--CF1154insTC and CF1213delT, respectively, are predicted to shift the reading frame of the protein and to introduce UAA(ochre) termination codons at residues 369 and 368. |
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