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Disease Mechanisms of C9ORF72 Repeat Expansions

G(4)C(2) repeat expansions within the C9ORF72 gene are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). These bidirectionally transcribed expansions lead to (1) the accumulation of sense G(4)C(2) and antisense G(2)C(4) repeat-containing RNA, (2)...

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Bibliografski detalji
Izdano u:Cold Spring Harb Perspect Med
Glavni autori: Gendron, Tania F., Petrucelli, Leonard
Format: Artigo
Jezik:Inglês
Izdano: Cold Spring Harbor Laboratory Press 2018
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5880161/
https://ncbi.nlm.nih.gov/pubmed/28130314
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/cshperspect.a024224
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