Characterization of a Recurrent Novel Large Duplication in the Cystic Fibrosis Transmembrane Conductance Regulator Gene-Reference-Cited by-同舟云学术

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Characterization of a Recurrent Novel Large Duplication in the Cystic Fibrosis Transmembrane Conductance Regulator Gene

Published:2007-09 Issue:4 Volume:9 Page:556-560
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Hantash Feras M.,Redman Joy B.,Goos Dana,Kammesheidt Anja,McGinniss Matthew J.,Sun Weimin,Strom Charles M.

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference20 articles.

1. Cystic fibrosis;Cutting,2002

2. Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples;McGinniss;Hum Genet,2005

3. Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening;Hantash;Hum Genet,2006

4. Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms;Audrézet;Hum Mutat,2004

5. Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis;Niel;J Med Genet,2004

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1. Modern Approaches in Management of Children with Cystic fibrosis;Pediatric pharmacology;2022-05-27

2. Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls;The Journal of Molecular Diagnostics;2022-01

3. Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening;International Journal of Neonatal Screening;2021-11-02

4. EX18_21 large duplication: A novel pathogenic mutation of the CFTR gene for cystic fibrosis;Pediatric Pulmonology;2020-10-29

5. Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients;Genes;2020-05-15

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