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Pitfalls of Multiple Ligation-Dependent Probe Amplifications in Detecting DMD Exon Deletions or Duplications  Man Jin Kim, Sung Im Cho, Jong-Hee Chae,

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Presentation on theme: "Pitfalls of Multiple Ligation-Dependent Probe Amplifications in Detecting DMD Exon Deletions or Duplications  Man Jin Kim, Sung Im Cho, Jong-Hee Chae,"— Presentation transcript:

1 Pitfalls of Multiple Ligation-Dependent Probe Amplifications in Detecting DMD Exon Deletions or Duplications  Man Jin Kim, Sung Im Cho, Jong-Hee Chae, Byung Chan Lim, Jee-Soo Lee, Seung Jun Lee, Soo Hyun Seo, Hyunwoong Park, Anna Cho, So Yeon Kim, Ji Yeon Kim, Sung Sup Park, Moon-Woo Seong  The Journal of Molecular Diagnostics  Volume 18, Issue 2, Pages (March 2016) DOI: /j.jmoldx Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2 Figure 1 Results of genetic tests in this study. Targeted sequencing was performed for 11 cases with indeterminate results on multiple ligation-dependent probe amplifications (MLPA) or single-exon deletion unconfirmed by PCR. Asterisk denotes all 11 cases having sequence variations (SVs) on their probe-hybridizing sites. DMD/BMD, Duchenne/Becker muscular dystrophy; LPO, left probe oligonucleotide; RPO, right probe oligonucleotide. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

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