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Multiplex Ligation-Dependent Probe Amplification Identification of Whole Exon and Single Nucleotide Deletions in the CFTR Gene of Hispanic Individuals.

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Presentation on theme: "Multiplex Ligation-Dependent Probe Amplification Identification of Whole Exon and Single Nucleotide Deletions in the CFTR Gene of Hispanic Individuals."— Presentation transcript:

1 Multiplex Ligation-Dependent Probe Amplification Identification of Whole Exon and Single Nucleotide Deletions in the CFTR Gene of Hispanic Individuals with Cystic Fibrosis  Iris Schrijver, Krista Rappahahn, Lynn Pique, Martin Kharrazi, Lee-Jun Wong  The Journal of Molecular Diagnostics  Volume 10, Issue 4, Pages (July 2008) DOI: /jmoldx Copyright © 2008 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

2 Figure 1 Peak pattern of three suspected exon deletions in CFTR. A 35 to 50% reduction of relative peak height of the amplified product (compared to a corresponding control) suggested two apparently novel deletions in three patients: deletion of exon 6b (two subjects) and deletion of exon 20. The Journal of Molecular Diagnostics  , DOI: ( /jmoldx ) Copyright © 2008 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

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