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Research article

First published 2009-12

The p.Arg258Gly Mutation in Intracellular Loop 2 of CFTR is Associated with CFTR -Related Disorders

Laia Masvidal, Javier Giménez, María D. Ramos [...]

Genetic Testing and Molecular Biomarkers

Free access

Research article

First published 2017-6

High-Throughput Screening for Readthrough Modulators of CFTR PTC Mutations

Feng Liang, Haibo Shang, Nikole J. Jordan [...]

Journal of Laboratory Automation

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Research article

First published 2005-12

Indirect CFTR Mutation Identification by PCR/OLA Anomalous Electropherograms

Pietro Stanziale, Maria Savino, Patrizia De Bonis [...]

Genetic Testing and Molecular Biomarkers

Free access

First published 1999-06

Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosis

Journal of Medical Screening

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Research article

First published 2001-09

Spectrum of Mutations in the CFTR Gene of Patients with Classical and Atypical Forms of Cystic Fibrosis from Southwestern Sweden: Identification of 12 Novel Mutations

Birgitta Strandvik, Eva Björck, Marie Fallström [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2011-01

Spectrum of CFTR Gene Mutations in Iranian Azeri Turkish Patients with Cystic Fibrosis

Mortaza Bonyadi, Omid Omrani, Mandana Rafeey [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2006-09

Molecular Basis of Cystic Fibrosis in Lithuania: Incomplete CFTR Mutation Detection by PCR-Based Screening Protocols

S. Giannattasio, A. Bobba, V. Jurgelevičius [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2012-07

Mutation Analysis of the CFTR Gene in 225 Children: Identification of Five Novel Severe and Seven Reported Severe Mutations

Kabir Sachdeva, Renu Saxena, Ratna Puri [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2008-03

CFTR Mutations in Turkish and North African Cystic Fibrosis Patients in Europe: Implications for Screening

Phillis Lakeman, Johan J.P. Gille, Jeannette E. Dankert-Roelse [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2016

Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis

Miyono M. Hendrix, Stephanie L. Foster, Suzanne K. Cordovado

Journal of Inborn Errors of Metabolism and Screening

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