Department of Medical Genetics University of Athens St Sophia's Children's Hospital
Submitted Phenotype Details
The patient (female, 20y) was diagnosed when 3 years old, presenting with dehydration , she is PI, has sweat chloride 92.2 mmol/l, FEV1 88%, chronic cough and Pseudomonas Aeruginosa infections. She carries deltaF508 on the other allele. (pers. corr. Tzetis)
Reference
To check if there are any papers published about this mutation/variant on PubMed, please click here.
Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011
