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  • Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR

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Original article
Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR
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Authors

  • D Trujillano Genetic Causes of Disease Group, Centre for Genomic Regulation (CRG), Barcelona, Catalonia, Spain Universitat Pompeu Fabra (UPF), Barcelona, Catalonia, Spain Hospital del Mar Medical Research Institute (IMIM), Barcelona, Catalonia, Spain CIBER in Epidemiology and Public Health (CIBERESP), Barcelona, Catalonia, Spain PubMed articlesGoogle scholar articles
  • M D Ramos Human Molecular Genetics Group, IDIBELL, L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain PubMed articlesGoogle scholar articles
  • J González Genetic Causes of Disease Group, Centre for Genomic Regulation (CRG), Barcelona, Catalonia, Spain Universitat Pompeu Fabra (UPF), Barcelona, Catalonia, Spain Hospital del Mar Medical Research Institute (IMIM), Barcelona, Catalonia, Spain CIBER in Epidemiology and Public Health (CIBERESP), Barcelona, Catalonia, Spain PubMed articlesGoogle scholar articles
  • C Tornador Genetic Causes of Disease Group, Centre for Genomic Regulation (CRG), Barcelona, Catalonia, Spain Universitat Pompeu Fabra (UPF), Barcelona, Catalonia, Spain Hospital del Mar Medical Research Institute (IMIM), Barcelona, Catalonia, Spain CIBER in Epidemiology and Public Health (CIBERESP), Barcelona, Catalonia, Spain PubMed articlesGoogle scholar articles
  • F Sotillo Human Molecular Genetics Group, IDIBELL, L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain PubMed articlesGoogle scholar articles
  • G Escaramis Genetic Causes of Disease Group, Centre for Genomic Regulation (CRG), Barcelona, Catalonia, Spain Universitat Pompeu Fabra (UPF), Barcelona, Catalonia, Spain Hospital del Mar Medical Research Institute (IMIM), Barcelona, Catalonia, Spain CIBER in Epidemiology and Public Health (CIBERESP), Barcelona, Catalonia, Spain PubMed articlesGoogle scholar articles
  • S Ossowski Genomic and Epigenomic Variation in Disease Group, Centre for Genomic Regulation (CRG), Barcelona, Catalonia, Spain Universitat Pompeu Fabra (UPF), Barcelona, Catalonia, Spain PubMed articlesGoogle scholar articles
  • L Armengol qGENOMICS, Quantitative Genomic Medicine Laboratories SL, Barcelona, Catalonia, Spain PubMed articlesGoogle scholar articles
  • T Casals Human Molecular Genetics Group, IDIBELL, L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain PubMed articlesGoogle scholar articles
  • X Estivill CIBER in Epidemiology and Public Health (CIBERESP), Barcelona, Catalonia, Spain Genetic Causes of Disease Group, Centre for Genomic Regulation (CRG), Barcelona, Catalonia, Spain Universitat Pompeu Fabra (UPF), Barcelona, Catalonia, Spain Hospital del Mar Medical Research Institute (IMIM), Barcelona, Catalonia, Spain PubMed articlesGoogle scholar articles
  1. Correspondence to Dr X Estivill, Genetic Causes of Disease Group, Bioinformatics and Genomics Programme, Centre for Genomic Regulation (CRG), Doctor Aiguader 88, Barcelona, Catalonia 08003, Spain; xavier.estivill{at}crg.cat
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Citation

Trujillano D, Ramos MD, González J, et al
Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR
Journal of Medical Genetics 2013;50:455-462.

Publication history

  • Received February 13, 2013
  • Revised March 28, 2013
  • Accepted April 16, 2013
  • First published May 17, 2013.
Online issue publication 
June 11, 2013

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