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Diagnosing mitochondrial, neurogastrointestinal leukoencephalopathy requires mutations in TYMP1, POLG1, LIG1, or RRM2B
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10103436/ https://www.ncbi.nlm.nih.gov/pubmed/37055871 http://dx.doi.org/10.1186/s13256-023-03916-y |
| _version_ | 1785025851779186688 |
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| author | Finsterer, Josef |
| author_facet | Finsterer, Josef |
| author_sort | Finsterer, Josef |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-10103436 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2023 |
| publisher | BioMed Central |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-101034362023-04-15 Diagnosing mitochondrial, neurogastrointestinal leukoencephalopathy requires mutations in TYMP1, POLG1, LIG1, or RRM2B Finsterer, Josef J Med Case Rep Letter to the Editor BioMed Central 2023-04-14 /pmc/articles/PMC10103436/ /pubmed/37055871 http://dx.doi.org/10.1186/s13256-023-03916-y Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
| spellingShingle | Letter to the Editor Finsterer, Josef Diagnosing mitochondrial, neurogastrointestinal leukoencephalopathy requires mutations in TYMP1, POLG1, LIG1, or RRM2B |
| title | Diagnosing mitochondrial, neurogastrointestinal leukoencephalopathy requires mutations in TYMP1, POLG1, LIG1, or RRM2B |
| title_full | Diagnosing mitochondrial, neurogastrointestinal leukoencephalopathy requires mutations in TYMP1, POLG1, LIG1, or RRM2B |
| title_fullStr | Diagnosing mitochondrial, neurogastrointestinal leukoencephalopathy requires mutations in TYMP1, POLG1, LIG1, or RRM2B |
| title_full_unstemmed | Diagnosing mitochondrial, neurogastrointestinal leukoencephalopathy requires mutations in TYMP1, POLG1, LIG1, or RRM2B |
| title_short | Diagnosing mitochondrial, neurogastrointestinal leukoencephalopathy requires mutations in TYMP1, POLG1, LIG1, or RRM2B |
| title_sort | diagnosing mitochondrial, neurogastrointestinal leukoencephalopathy requires mutations in tymp1, polg1, lig1, or rrm2b |
| topic | Letter to the Editor |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10103436/ https://www.ncbi.nlm.nih.gov/pubmed/37055871 http://dx.doi.org/10.1186/s13256-023-03916-y |
| work_keys_str_mv | AT finstererjosef diagnosingmitochondrialneurogastrointestinalleukoencephalopathyrequiresmutationsintymp1polg1lig1orrrm2b |