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A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK

Amyotrophic lateral sclerosis is a progressive neurodegenerative disease of motor neurons. About 25 genes have been verified as relevant to the disease process, with rare and common variation implicated. We used next generation sequencing and repeat sizing to comprehensively assay genetic variation...

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Podrobná bibliografie
Vydáno v:Brain
Hlavní autoři: Morgan, Sarah, Shatunov, Aleksey, Sproviero, William, Jones, Ashley R., Shoai, Maryam, Hughes, Deborah, Al Khleifat, Ahmad, Malaspina, Andrea, Morrison, Karen E., Shaw, Pamela J., Shaw, Christopher E., Sidle, Katie, Orrell, Richard W., Fratta, Pietro, Hardy, John, Pittman, Alan, Al-Chalabi, Ammar
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2017
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5445258/
https://ncbi.nlm.nih.gov/pubmed/28430856
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awx082
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