Cystic fibrosis mutation I1234V in a Qatari lady.
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.
Wahab
A Abdul
AA
Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
D000328:Adult; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation; D011780:Qatar
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator