University of Graz Inst. Med. Biology & Human Genetics Graz Austria
Submitted Phenotype Details
The mutation was identified in 2 patients, both females carrying deltaF508 on the other allele. One was diagnosed at 5 months of age and had positive sweat chloride, and the other was diagnosed with CF at the age of 20. (pers corr. Wagner)
Reference
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The Database was last updated at Apr 25, 2011
