Abstract
In a systematic screening for mutations in the gene encoding the cystic fibrosis transmembrane regulator among Danish cystic fibrosis (CF) patients, we identified a mutation in exon 3 (394delTT); this mutation was found to be relatively common in Denmark. We therefore screened for 394delTT in Sweden and Norway, where it turned out to be the second most frequent mutation, accounting for 4% of all CF mutations. It also occurs with a high frequency in Finland, but has not been found in larger surveys of mutations in the CFTR gene. Thus, 394delTT seems to be a specific Nordic CF mutation.
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Schwartz, M., Anvret, M., Claustres, M. et al. 394delTT: a Nordic cystic fibrosis mutation. Hum Genet 93, 157–161 (1994). https://doi.org/10.1007/BF00210602
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DOI: https://doi.org/10.1007/BF00210602