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

Abstract 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 ob...

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Detalhes bibliográficos

Principais autores:	Alfredo Iacoangeli, Ahmad Al Khleifat, Ashley R. Jones, William Sproviero, Aleksey Shatunov, Sarah Opie-Martin, Alzheimer’s Disease Neuroimaging Initiative, Karen E. Morrison, Pamela J. Shaw, Christopher E. Shaw, Isabella Fogh, Richard J. Dobson, Stephen J. Newhouse, Ammar Al-Chalabi
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2019-07-01
coleção:	Acta Neuropathologica Communications
Assuntos:	C9orf72 Repeat expansion ALS Genetics Whole-genome sequencing Next-generation sequencing
Acesso em linha:	http://link.springer.com/article/10.1186/s40478-019-0724-4
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