Article
Novel cftr gene sequence variation in Serbian patient with idiopathic disseminated bronchiectasis.
Fetal and pediatric pathology - 1 Jan 2010
Nikolic Aleksandra, Milosevic Katarina, Divac Aleksandra, Ljujic Mila, Grkovic Slobodanka, Nestorovic Branimir
Abstract excerpt
This paper reports a novel Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene variant, 1811+1G-->T, detected in a 5-year-old girl diagnosed with idiopathic disseminated bronchiectasis and negative sweat chloride test (17 mmol/L). The performed CFTR gene mutation analysis included detection of the F508del mutation, analysis of Tn polymorphism and screening of CFTR exons 3, 10 and 11. The CFTR gene...
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