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Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability

Detalles Bibliográficos
Autores principales: Krim, Elsa, Aupy, Jerome, Clot, Fabienne, Bonnan, Mickael, Burbaud, Pierre, Guehl, Dominique
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5864504/
https://www.ncbi.nlm.nih.gov/pubmed/29577080
http://dx.doi.org/10.1212/NXG.0000000000000231
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author Krim, Elsa
Aupy, Jerome
Clot, Fabienne
Bonnan, Mickael
Burbaud, Pierre
Guehl, Dominique
author_facet Krim, Elsa
Aupy, Jerome
Clot, Fabienne
Bonnan, Mickael
Burbaud, Pierre
Guehl, Dominique
author_sort Krim, Elsa
collection PubMed
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spelling pubmed-58645042018-03-23 Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability Krim, Elsa Aupy, Jerome Clot, Fabienne Bonnan, Mickael Burbaud, Pierre Guehl, Dominique Neurol Genet Clinical/Scientific Notes Wolters Kluwer 2018-03-22 /pmc/articles/PMC5864504/ /pubmed/29577080 http://dx.doi.org/10.1212/NXG.0000000000000231 Text en Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND) (http://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
spellingShingle Clinical/Scientific Notes
Krim, Elsa
Aupy, Jerome
Clot, Fabienne
Bonnan, Mickael
Burbaud, Pierre
Guehl, Dominique
Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability
title Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability
title_full Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability
title_fullStr Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability
title_full_unstemmed Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability
title_short Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability
title_sort mutation in the gch1 gene with dopa-responsive dystonia and phenotypic variability
topic Clinical/Scientific Notes
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5864504/
https://www.ncbi.nlm.nih.gov/pubmed/29577080
http://dx.doi.org/10.1212/NXG.0000000000000231
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