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Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene
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/PMC6066361/ https://www.ncbi.nlm.nih.gov/pubmed/30065954 http://dx.doi.org/10.1212/NXG.0000000000000260 |
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author | Sung, Angela R. Moretti, Paolo Shaibani, Aziz |
author_facet | Sung, Angela R. Moretti, Paolo Shaibani, Aziz |
author_sort | Sung, Angela R. |
collection | PubMed |
description | |
format | Online Article Text |
id | pubmed-6066361 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Wolters Kluwer |
record_format | MEDLINE/PubMed |
spelling | pubmed-60663612018-07-31 Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene Sung, Angela R. Moretti, Paolo Shaibani, Aziz Neurol Genet Clinical/Scientific Notes Wolters Kluwer 2018-07-27 /pmc/articles/PMC6066361/ /pubmed/30065954 http://dx.doi.org/10.1212/NXG.0000000000000260 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 Sung, Angela R. Moretti, Paolo Shaibani, Aziz Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene |
title | Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene |
title_full | Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene |
title_fullStr | Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene |
title_full_unstemmed | Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene |
title_short | Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene |
title_sort | case of late-onset sandhoff disease due to a novel mutation in the hexb gene |
topic | Clinical/Scientific Notes |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6066361/ https://www.ncbi.nlm.nih.gov/pubmed/30065954 http://dx.doi.org/10.1212/NXG.0000000000000260 |
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