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Open Access
Peer-reviewed
Research Article
New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy
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Sarah Moreau-Le Lan,
Roles Conceptualization, Formal analysis, Methodology, Writing – original draft, Writing – review & editing
Affiliation Genomic Unit, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain
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Elena Aller,
Roles Conceptualization, Supervision, Writing – original draft, Writing – review & editing
Affiliations Genetics Unit, La Fe University Hospital, Valencia, Spain, Research Group on Molecular, Cellular and Genomic Biomedicine, Instituto de Investigación Sanitaria La Fe, Valencia, Spain, Biomedical Network Research Center for Rare Diseases (CIBERER), Madrid, Spain
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Ines Calabria,
Roles Methodology, Validation, Writing – review & editing
Affiliation Genomic Unit, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain
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Lola Gonzalez-Tarancon,
Roles Methodology, Visualization
Affiliation Genomic Unit, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain
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Cristina Cardona-Gay,
Roles Conceptualization, Methodology
Affiliation Genomic Unit, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain
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Marina Martinez-Matilla,
Roles Data curation, Validation, Visualization, Writing – review & editing
Affiliation Genomic Unit, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain
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Maria J. Aparisi,
Roles Conceptualization, Formal analysis, Methodology
Affiliation Genomic Unit, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain
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Jorge Selles,
Roles Conceptualization, Methodology
Affiliation Genomic Unit, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain
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Lydia Sagath,
Roles Methodology, Validation
Affiliation The Folkhälsan Institute of Genetics and the Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland
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Inmaculada Pitarch,
Roles Conceptualization, Resources, Writing – review & editing
Affiliation Unit of Rare Neuromuscular Diseases, La Fe University Hospital, Valencia, Spain
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Nuria Muelas,
Roles Resources, Writing – review & editing
Affiliations Biomedical Network Research Center in Oncology (CIBERONC), Madrid, Spain, Neuromuscular Diseases Unit, Neurology Department, La Fe University Hospital, Valencia, Spain, and Neuromuscular & Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain
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Jose V. Cervera,
Roles Project administration, Supervision, Writing – review & editing
Affiliations Genetics Unit, La Fe University Hospital, Valencia, Spain, Biomedical Network Research Center in Oncology (CIBERONC), Madrid, Spain
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Jose M. Millan,
Roles Conceptualization, Resources, Supervision, Validation, Writing – original draft, Writing – review & editing
Affiliations Genomic Unit, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain, Research Group on Molecular, Cellular and Genomic Biomedicine, Instituto de Investigación Sanitaria La Fe, Valencia, Spain, Biomedical Network Research Center for Rare Diseases (CIBERER), Madrid, Spain
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Laia Pedrola
Roles Conceptualization, Methodology, Supervision, Writing – original draft, Writing – review & editing
* E-mail: sequencing_service@iislafe.es
Affiliation Genomic Unit, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain
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New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy
- Sarah Moreau-Le Lan,
- Elena Aller,
- Ines Calabria,
- Lola Gonzalez-Tarancon,
- Cristina Cardona-Gay,
- Marina Martinez-Matilla,
- Maria J. Aparisi,
- Jorge Selles,
- Lydia Sagath,
- Inmaculada Pitarch
- Published: December 5, 2018
- https://doi.org/10.1371/journal.pone.0207296