This variant was found in two unrelated cases. The first incidence concerned a 4 months old girl referred for CFTR genotyping due to failure to thrive. Screening by DGGE and direct sequencing revealed the presence of two novel variants in trans (the other being p.Leu1227Leu in exon 19).
The second incidence concerned an adult male screened as a member of the general population
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The Database was last updated at Apr 25, 2011