SMN1 gene duplications are associated with sporadic ALS

OBJECTIVE: To investigate the role of SMN1 and SMN2 copy number variation and point mutations in amyotrophic lateral sclerosis (ALS) pathogenesis in a large population. METHODS: We conducted a genetic association study including 847 patients with ALS and 984 controls. We used multiplexed ligation-de...

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Autori principali: Blauw, H.M., Barnes, C.P., van Vught, P.W.J., van Rheenen, W., Verheul, M., Cuppen, E., Veldink, J.H., van den Berg, L.H.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Lippincott Williams & Wilkins 2012
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Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3304946/
https://ncbi.nlm.nih.gov/pubmed/22323753
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e318249f697
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