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The Genetics of C9orf72 Expansions

Repeat expansions in the promoter region of C9orf72 are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and related disorders of the ALS/frontotemporal lobar degeneration (FTLD) spectrum. Remarkable clinical heterogeneity among patients with a repeat expansion has been observed,...

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Publicado en:Cold Spring Harb Perspect Med
Main Authors: Gijselinck, Ilse, Cruts, Marc, Van Broeckhoven, Christine
Formato: Artigo
Idioma:Inglês
Publicado: Cold Spring Harbor Laboratory Press 2018
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5880162/
https://ncbi.nlm.nih.gov/pubmed/28130313
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/cshperspect.a026757
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