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...

Descripción completa

Detalles Bibliográficos
Autores principales: Chintalaphani, Sanjog R., Pineda, Sandy S., Deveson, Ira W., Kumar, Kishore R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Review
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

Internet

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

Ejemplares similares