This mutation was identified on one Greek CF chromosome.
Maria Tzetis; Konstantina Pouliou; Alexia Tsiamouri; Emmanuel Kanavakis
Department of Medical Genetics; Athens University
Submitted Phenotype Details
The individual (male; 3yrs old) is diagnosed clinically of CF. His sweat chloride is 120-130 mEql/l. He presented with dehydration; chronic cough and PI colonization. The other mutation remains unknown.
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