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Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2018
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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 |
description | |
format | Online Article Text |
id | pubmed-5864504 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Wolters Kluwer |
record_format | MEDLINE/PubMed |
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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