C9orf72 intermediate expansions of 24–30 repeats are associated with ALS

The expansion of a hexanucleotide repeat GGGGCC in C9orf72 is the most common known cause of ALS accounting for ~ 40% familial cases and ~ 7% sporadic cases in the European population. In most people, the repeat length is 2, but in people with ALS, hundreds to thousands of repeats may be observed. A...

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Detalles Bibliográficos
Autores principales: Iacoangeli, Alfredo, Al Khleifat, Ahmad, Jones, Ashley R., Sproviero, William, Shatunov, Aleksey, Opie-Martin, Sarah, Morrison, Karen E., Shaw, Pamela J., Shaw, Christopher E., Fogh, Isabella, Dobson, Richard J., Newhouse, Stephen J., Al-Chalabi, Ammar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6637621/
https://www.ncbi.nlm.nih.gov/pubmed/31315673
http://dx.doi.org/10.1186/s40478-019-0724-4

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