Targeted amplicon sequencing in genetic diagnostics of patients with cystic fibrosis

Authors

  • Jelena Kusic-Tisma Institute of Molecular Genetics and Genetic Engineering
  • Aleksandra Divac Rankov Institute of Molecular Genetics and Genetic Engineering
  • Mila Ljujic Institute of Molecular Genetics and Genetic Engineering
  • Nadja Pejanovic Institute of Molecular Genetics and Genetic Engineering
  • Bojana Stanic Institute of Molecular Genetics and Genetic Engineering
  • Dragica Radojkovic Institute of Molecular Genetics and Genetic Engineering

DOI:

https://doi.org/10.14806/ej.21.A.814

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.
EJ 21.A

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Published

2015-03-25

Issue

Vol. 21: Supplement A

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