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A Novel HNPP Phenotype in Charcot-Marie-Tooth Type 2E With c.1319C>T Missense Mutation in the NEFL Gene
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Korean Neurological Association
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8926773/ https://www.ncbi.nlm.nih.gov/pubmed/35274844 http://dx.doi.org/10.3988/jcn.2022.18.2.244 |
| _version_ | 1784670307289661440 |
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| author | Choi, Ko-Eun Yim, Jisook Kim, Myungshin Lee, Jung Hwan |
| author_facet | Choi, Ko-Eun Yim, Jisook Kim, Myungshin Lee, Jung Hwan |
| author_sort | Choi, Ko-Eun |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-8926773 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2022 |
| publisher | Korean Neurological Association |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-89267732022-03-24 A Novel HNPP Phenotype in Charcot-Marie-Tooth Type 2E With c.1319C>T Missense Mutation in the NEFL Gene Choi, Ko-Eun Yim, Jisook Kim, Myungshin Lee, Jung Hwan J Clin Neurol Letter to the Editor Korean Neurological Association 2022-03 2022-02-25 /pmc/articles/PMC8926773/ /pubmed/35274844 http://dx.doi.org/10.3988/jcn.2022.18.2.244 Text en Copyright © 2022 Korean Neurological Association https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://creativecommons.org/licenses/by-nc/4.0 (https://creativecommons.org/licenses/by-nc/4.0/) ) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Letter to the Editor Choi, Ko-Eun Yim, Jisook Kim, Myungshin Lee, Jung Hwan A Novel HNPP Phenotype in Charcot-Marie-Tooth Type 2E With c.1319C>T Missense Mutation in the NEFL Gene |
| title | A Novel HNPP Phenotype in Charcot-Marie-Tooth Type 2E With c.1319C>T Missense Mutation in the NEFL Gene |
| title_full | A Novel HNPP Phenotype in Charcot-Marie-Tooth Type 2E With c.1319C>T Missense Mutation in the NEFL Gene |
| title_fullStr | A Novel HNPP Phenotype in Charcot-Marie-Tooth Type 2E With c.1319C>T Missense Mutation in the NEFL Gene |
| title_full_unstemmed | A Novel HNPP Phenotype in Charcot-Marie-Tooth Type 2E With c.1319C>T Missense Mutation in the NEFL Gene |
| title_short | A Novel HNPP Phenotype in Charcot-Marie-Tooth Type 2E With c.1319C>T Missense Mutation in the NEFL Gene |
| title_sort | novel hnpp phenotype in charcot-marie-tooth type 2e with c.1319c>t missense mutation in the nefl gene |
| topic | Letter to the Editor |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8926773/ https://www.ncbi.nlm.nih.gov/pubmed/35274844 http://dx.doi.org/10.3988/jcn.2022.18.2.244 |
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