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Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5022844/ https://www.ncbi.nlm.nih.gov/pubmed/27668284 http://dx.doi.org/10.1212/NXG.0000000000000106 |
| _version_ | 1782453586438914048 |
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| author | Steinrücke, Sofia Lohmann, Katja Domingo, Aloysius Rolfs, Arndt Bäumer, Tobias Spiegler, Juliane Hartmann, Corinna Münchau, Alexander |
| author_facet | Steinrücke, Sofia Lohmann, Katja Domingo, Aloysius Rolfs, Arndt Bäumer, Tobias Spiegler, Juliane Hartmann, Corinna Münchau, Alexander |
| author_sort | Steinrücke, Sofia |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-5022844 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2016 |
| publisher | Wolters Kluwer |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-50228442016-09-23 Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability Steinrücke, Sofia Lohmann, Katja Domingo, Aloysius Rolfs, Arndt Bäumer, Tobias Spiegler, Juliane Hartmann, Corinna Münchau, Alexander Neurol Genet Clinical/Scientific Notes Wolters Kluwer 2016-09-13 /pmc/articles/PMC5022844/ /pubmed/27668284 http://dx.doi.org/10.1212/NXG.0000000000000106 Text en © 2016 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. |
| spellingShingle | Clinical/Scientific Notes Steinrücke, Sofia Lohmann, Katja Domingo, Aloysius Rolfs, Arndt Bäumer, Tobias Spiegler, Juliane Hartmann, Corinna Münchau, Alexander Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability |
| title | Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability |
| title_full | Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability |
| title_fullStr | Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability |
| title_full_unstemmed | Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability |
| title_short | Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability |
| title_sort | novel gnb1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability |
| topic | Clinical/Scientific Notes |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5022844/ https://www.ncbi.nlm.nih.gov/pubmed/27668284 http://dx.doi.org/10.1212/NXG.0000000000000106 |
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