Targeted amplicon sequencing in genetic diagnostics of patients with cystic fibrosis
Abstract
We performed targeted resequencing of CFTR gene in 24 CF patients using multiplex PCR amplification and MiSeq instrument. Results confirmed all the variants previously detected in these patients and identified additional 16, four of which were disease-causing according to CFTR2 database.
DOI: https://doi.org/10.14806/ej.21.A.814
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