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Article

Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR

17 May 2013

Abstract excerpt

BACKGROUND: Here we have developed a novel and much more efficient strategy for the complete molecular characterisation of the cystic fibrosis (CF) transmembrane regulator (CFTR) gene, based on multiplexed targeted resequencing. We have tested this approach in a cohort of 92 samples with previously characterised CFTR mutations and polymorphisms. METHODS: After enrichment of the pooled barcoded DNA libraries with...

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PMID: 23687349
DOI: 10.1136/jmedgenet-2013-101602

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