Article
Detection of DeltaF508del using quantitative real-time PCR, comparison of the results obtained by fluorescent PCR.
Fetal diagnosis and therapy - 1 Jan 2007
Nagy Bálint, Nagy Gyula Richárd, Lázár Levente, Bán Zoltán, Papp Zoltán
Abstract excerpt
OBJECTIVE: Cystic fibrosis (CF) is the most common autosomal recessive genetic disorder in the Caucasian population. The molecular diagnosis is difficult since there are about 1,000 mutations in the CF transmembrane regulator gene. The DeltaF508del is the cause of the CF in 64% of the cases in Hungary. Our aim was to compare two polymerase chain reaction (PCR)-based method for the detection of DeltaF508del....
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