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Detection of large rearrangements in the cystic fibrosis transmembrane conductance regulator gene by multiplex ligation-dependent probe amplification assay when sequencing fails to detect two disease-causing mutations.
Svensson AM, Chou LS, Miller CE, Robles JA, Swensen JJ, Voelkerding KV, Mao R, Lyon E. Svensson AM, et al. Among authors: chou ls. Genet Test Mol Biomarkers. 2010 Apr;14(2):171-4. doi: 10.1089/gtmb.2009.0099. Genet Test Mol Biomarkers. 2010. PMID: 20059381
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