A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequ...
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing
About this item
Full title
Author / Creator
Krahn, Martin , Biancalana, Valérie , Cerino, Mathieu , Perrin, Aurélien , Michel-Calemard, Laurence , Nectoux, Juliette , Leturcq, France , Bouchet-Séraphin, Céline , Acquaviva-Bourdain, Cécile , Campana-Salort, Emmanuelle , Molon, Annamaria , Urtizberea, Jon Andoni , Audic, Frédérique , Chabrol, Brigitte , Pouget, Jean , Froissart, Roseline , Melki, Judith , Rendu, John , Petit, François , Métay, Corinne , Seta, Nathalie , Sternberg, Damien , Fauré, Julien and Cossée, Mireille
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
Next-generation sequencing (NGS) gene-panel-based analyses constitute diagnosis strategies which are adapted to the genetic heterogeneity within the field of myopathies, including more than 200 implicated genes to date. Nonetheless, important inter-laboratory diversity of gene panels exists at national and international levels, complicating the exc...
Alternative Titles
Full title
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing
Authors, Artists and Contributors
Author / Creator
Biancalana, Valérie
Cerino, Mathieu
Perrin, Aurélien
Michel-Calemard, Laurence
Nectoux, Juliette
Leturcq, France
Bouchet-Séraphin, Céline
Acquaviva-Bourdain, Cécile
Campana-Salort, Emmanuelle
Molon, Annamaria
Urtizberea, Jon Andoni
Audic, Frédérique
Chabrol, Brigitte
Pouget, Jean
Froissart, Roseline
Melki, Judith
Rendu, John
Petit, François
Métay, Corinne
Seta, Nathalie
Sternberg, Damien
Fauré, Julien
Cossée, Mireille
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6460575
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6460575
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-018-0305-1
