Cargando…
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...
| Autores principales: | , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2021
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8145836/ https://www.ncbi.nlm.nih.gov/pubmed/34034831 http://dx.doi.org/10.1186/s40478-021-01201-x |