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Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology.
Bergougnoux, Anne; D'Argenio, Valeria; Sollfrank, Stefanie; Verneau, Fanny; Telese, Antonella; Postiglione, Irene; Lackner, Karl J; Claustres, Mireille; Castaldo, Giuseppe; Rossman, Heidi; Salvatore, Francesco; Raynal, Caroline.
Afiliação
  • Bergougnoux A; Laboratory of Molecular Genetics, Montpellier University Hospital, Montpellier Cedex 5, France.
  • D'Argenio V; Rare Genetic Diseases Laboratory, Institut Universitaire de Recherche Clinique, University of Montpellier, Montpellier Cedex 5, France.
  • Sollfrank S; CEINGE-Biotecnologie Avanzate, Naples, Italy.
  • Verneau F; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy.
  • Telese A; Department of Clinical Chemistry and Laboratory Medicine, Johannes Gutenberg University, Mainz, Germany.
  • Postiglione I; Laboratory of Molecular Genetics, Montpellier University Hospital, Montpellier Cedex 5, France.
  • Lackner KJ; CEINGE-Biotecnologie Avanzate, Naples, Italy.
  • Claustres M; CEINGE-Biotecnologie Avanzate, Naples, Italy.
  • Castaldo G; Department of Clinical Chemistry and Laboratory Medicine, Johannes Gutenberg University, Mainz, Germany.
  • Rossman H; Rare Genetic Diseases Laboratory, Institut Universitaire de Recherche Clinique, University of Montpellier, Montpellier Cedex 5, France.
  • Salvatore F; CEINGE-Biotecnologie Avanzate, Naples, Italy.
  • Raynal C; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy.
Clin Chem Lab Med ; 56(7): 1046-1053, 2018 06 27.
Article em En | MEDLINE | ID: mdl-29427548
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Análise de Sequência de DNA / Regulador de Condutância Transmembrana em Fibrose Cística Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Análise de Sequência de DNA / Regulador de Condutância Transmembrana em Fibrose Cística Idioma: En Ano de publicação: 2018 Tipo de documento: Article