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A Simple Method to Confirm and Size Deletion, Duplication, and Insertion Mutations Detected by Sequence Analysis  Lawrence N. Hjelm, Ephrem L.H. Chin,

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Presentation on theme: "A Simple Method to Confirm and Size Deletion, Duplication, and Insertion Mutations Detected by Sequence Analysis  Lawrence N. Hjelm, Ephrem L.H. Chin,"— Presentation transcript:

1 A Simple Method to Confirm and Size Deletion, Duplication, and Insertion Mutations Detected by Sequence Analysis  Lawrence N. Hjelm, Ephrem L.H. Chin, Madhuri R. Hegde, Bradford W. Coffee, Lora J.H. Bean  The Journal of Molecular Diagnostics  Volume 12, Issue 5, Pages (September 2010) DOI: /jmoldx Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

2 Figure 1 Fragment analysis of individuals with deletions in the (A) DBT gene (proband, mother and father; normal fragment is 458 bp), (B) GJB2 gene (proband and normal control; normal fragment is 637 bp), and (C) SMPD1 gene (individuals with five (582-bp) and six (588-bp) CTGGCG repeats and six and seven (594-bp) repeats). The Journal of Molecular Diagnostics  , DOI: ( /jmoldx ) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

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