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PubMed · 15463919

Quantitative methods for the analysis of CFTR transcripts/splicing variants.

Margarida D Amaral·Luka A Clarke·Anabela S Ramalho·Sebastian Beck·Fiona Broackes-Carter·Rebecca Rowntree·Nathalie Mouchel·Sarah H Williams·Ann Harris·Maria Tzetis·Bernhard Steiner·Javier Sanz·Sabina Gallati·Malka Nissim-Rafinifa·Batsheva Kerem·Timothy Hefferon·Garry R Cutting·Elisa Goina·Franco Pagani
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Abstract

In cystic fibrosis (CF), transcript analysis and quantification are important for diagnosis, prognosis and also as surrogate markers for some therapies including gene therapy. Classical RNA-based methods require significant expression levels in target samples for appropriate analysis, thus PCR-based methods are evolving towards reliable quantification. Various protocols for the quantitative analysis of CFTR transcripts (including those resulting from splicing variants) are described and discussed here.

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Cystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorGenetic TechniquesHumansReverse Transcriptase Polymerase Chain ReactionTranscription, GeneticJournal ArticleResearch Support, Non-U.S. Gov'tReview

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Margarida D Amaral, Luka A Clarke, Anabela S Ramalho, Sebastian Beck, Fiona Broackes-Carter, Rebecca Rowntree, Nathalie Mouchel, Sarah H Williams, Ann Harris, Maria Tzetis, Bernhard Steiner, Javier Sanz, Sabina Gallati, Malka Nissim-Rafinifa, Batsheva Kerem, Timothy Hefferon, Garry R Cutting, Elisa Goina, Franco Pagani. 2004. Quantitative methods for the analysis of CFTR transcripts/splicing variants.. https://doi.org/10.1016/j.jcf.2004.05.047

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