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Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis.
Pagin, Adrien; Devos, Aurore; Figeac, Martin; Truant, Maryse; Willoquaux, Christelle; Broly, Franck; Lalau, Guy.
Affiliation
  • Pagin A; Department of Toxicology and Genopathy, Biology Pathology Center, Lille University Hospital, Lille, France.
  • Devos A; Department of Toxicology and Genopathy, Biology Pathology Center, Lille University Hospital, Lille, France.
  • Figeac M; Functional and Structural Genomic Platform, Lille, France.
  • Truant M; Department of Toxicology and Genopathy, Biology Pathology Center, Lille University Hospital, Lille, France.
  • Willoquaux C; Department of Toxicology and Genopathy, Biology Pathology Center, Lille University Hospital, Lille, France.
  • Broly F; Department of Toxicology and Genopathy, Biology Pathology Center, Lille University Hospital, Lille, France.
  • Lalau G; University of Lille 2, Lille, France.
PLoS One ; 11(2): e0149426, 2016.
Article in En | MEDLINE | ID: mdl-26900683
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA Mutational Analysis / Cystic Fibrosis Transmembrane Conductance Regulator / Cystic Fibrosis Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: PLoS One Journal subject: CIENCIA / MEDICINA Year: 2016 Document type: Article Affiliation country: France
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA Mutational Analysis / Cystic Fibrosis Transmembrane Conductance Regulator / Cystic Fibrosis Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: PLoS One Journal subject: CIENCIA / MEDICINA Year: 2016 Document type: Article Affiliation country: France