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The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients

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Presentation on theme: "The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients"— Presentation transcript:

1 The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients
Iris Schrijver, Lynn Pique, Steve Graham, Michelle Pearl, Athena Cherry, Martin Kharrazi  The Journal of Molecular Diagnostics  Volume 18, Issue 1, Pages (January 2016) DOI: /j.jmoldx Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2 Figure 1 Newly characterized CFTR gene rearrangements. NCCF 105: This sequence depicts a novel complex deletion of exons 4 to 7 with a small, 4-bp insertion. NCCF : This sequence illustrates a novel duplication of exons 6b to 8. Exon listing is according to legacy numbering. CFTR rearrangements are relatively common in nonwhites and often are different from those in whites. As such, they are an important genotyping consideration in nonwhite CF patients. The Journal of Molecular Diagnostics  , 39-50DOI: ( /j.jmoldx ) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions


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