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Journal of Tropical Pediatrics 2003 49(1):54-55; doi:10.1093/tropej/49.1.54
© 2003 by Oxford University Press
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Case Report

Cystic Fibrosis Mutation I1234V in a Qatari Lady

A. Abdul Wahab1

1 Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar

We describe a late diagnosis of cystic fibrosis (CF) in a multiparous Qatari lady, in whom the main presenting symptoms were those of chronic lung disease. Genetic analysis showed that the patient has a homozygous mutation I1234V in the cystic fibrosis transmembrane conductance regulator gene. This suggests that this mutation has a variable expression of clinical severity and long survival.


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