NOVEL CFTR GENE SEQUENCE VARIATION IN SERBIAN PATIENT WITH IDIOPATHIC DISSEMINATED BRONCHIECTASIS
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...
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Published in | Fetal and pediatric pathology Vol. 29; no. 2; pp. 95 - 98 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
Published |
England
Informa UK Ltd
01.03.2010
Taylor & Francis |
Subjects | |
Online Access | Get full text |
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