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An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics
BACKGROUND: Short tandem repeat (STR) expansion disorders are an important cause of human neurological disease. They have an established role in more than 40 different phenotypes including the myotonic dystrophies, Fragile X syndrome, Huntington’s disease, the hereditary cerebellar ataxias, amyotrop...
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| Veröffentlicht in: | Acta Neuropathol Commun |
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| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2021
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8145836/ https://ncbi.nlm.nih.gov/pubmed/34034831 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-021-01201-x |
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