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A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570672/ https://www.ncbi.nlm.nih.gov/pubmed/28852708 http://dx.doi.org/10.1212/NXG.0000000000000182 |
| _version_ | 1783259202249031680 |
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| author | Al-Hashim, Aqeela Gonorazky, Hernan D. Amburgey, Kimberly Das, Soma Dowling, James J. |
| author_facet | Al-Hashim, Aqeela Gonorazky, Hernan D. Amburgey, Kimberly Das, Soma Dowling, James J. |
| author_sort | Al-Hashim, Aqeela |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-5570672 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2017 |
| publisher | Wolters Kluwer |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-55706722017-08-29 A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy Al-Hashim, Aqeela Gonorazky, Hernan D. Amburgey, Kimberly Das, Soma Dowling, James J. Neurol Genet Clinical/Scientific Notes Wolters Kluwer 2017-08-24 /pmc/articles/PMC5570672/ /pubmed/28852708 http://dx.doi.org/10.1212/NXG.0000000000000182 Text en Copyright © 2017 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 Al-Hashim, Aqeela Gonorazky, Hernan D. Amburgey, Kimberly Das, Soma Dowling, James J. A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy |
| title | A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy |
| title_full | A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy |
| title_fullStr | A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy |
| title_full_unstemmed | A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy |
| title_short | A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy |
| title_sort | novel intronic mutation in mtm1 detected by rna analysis in a case of x-linked myotubular myopathy |
| topic | Clinical/Scientific Notes |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570672/ https://www.ncbi.nlm.nih.gov/pubmed/28852708 http://dx.doi.org/10.1212/NXG.0000000000000182 |
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