The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients

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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 39-50 (January 2016) DOI: 10.1016/j.jmoldx.2015.07.005 Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

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 4033643: 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 2016 18, 39-50DOI: (10.1016/j.jmoldx.2015.07.005) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions