This mutation was identified on one Greek CF chromosome.
Contributors
Maria Tzetis; Konstantina Pouliou; Alexia Tsiamouri; Emmanuel Kanavakis
2003-12-17
Institute
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.
Reference
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The Database was last updated at Apr 25, 2011
