NOVEL CFTR GENE SEQUENCE VARIATION IN SERBIAN PATIENT WITH IDIOPATHIC DISSEMINATED BRONCHIECTASIS

• Published in: Fetal and pediatric pathology Vol. 29; no. 2; pp. 95 - 98
• Main Authors: Nikolic, Aleksandra, Milosevic, Katarina, Divac, Aleksandra, Ljujic, Mila, Grkovic, Slobodanka, Nestorovic, Branimir
• Format: Journal Article
• Language: English
• Published: England Informa UK Ltd 01.03.2010; Taylor & Francis
• Subjects: Alleles; Base Sequence - genetics; Bronchiectasis - genetics; Bronchiectasis - metabolism; Cystic Fibrosis Transmembrane Conductance Regulator - genetics; Cystic Fibrosis Transmembrane Conductance Regulator - metabolism; Exons; Female; Genetic Variation; Heterozygote; Humans; Introns; Lung Diseases - genetics; Lung Diseases - metabolism; Mutation; Polymerase Chain Reaction; Polymorphism, Genetic - genetics; RNA Splicing

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 detectio...