Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

IMPORTANCE: Movement disorders are characterized by a marked genotypic and phenotypic heterogeneity, complicating diagnostic work in clinical practice and molecular diagnosis. OBJECTIVE: To develop and evaluate a targeted sequencing approach using a customized panel of genes involved in movement dis...

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Détails bibliographiques
Publié dans:JAMA Neurol
Auteurs principaux: Montaut, Solveig, Tranchant, Christine, Drouot, Nathalie, Rudolf, Gabrielle, Guissart, Claire, Tarabeux, Julien, Stemmelen, Tristan, Velt, Amandine, Fourrage, Cécile, Nitschké, Patrick, Gerard, Bénédicte, Mandel, Jean-Louis, Koenig, Michel, Chelly, Jamel, Anheim, Mathieu
Format: Artigo
Langue:Inglês
Publié: American Medical Association 2018
Sujets:
Original Investigation
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6233854/
https://ncbi.nlm.nih.gov/pubmed/29913018
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaneurol.2018.1478
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