Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

Hexanucleotide repeat expansions in C9orf72 are a major cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Understanding the disease mechanisms and a method for clinical diagnostic genotyping have been hindered because of the difficulty in estimating the expan...

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Bibliografiska uppgifter
Huvudupphovsmän: Beck, Jon, Poulter, Mark, Hensman, Davina, Rohrer, Jonathan D., Mahoney, Colin J., Adamson, Gary, Campbell, Tracy, Uphill, James, Borg, Aaron, Fratta, Pietro, Orrell, Richard W., Malaspina, Andrea, Rowe, James, Brown, Jeremy, Hodges, John, Sidle, Katie, Polke, James M., Houlden, Henry, Schott, Jonathan M., Fox, Nick C., Rossor, Martin N., Tabrizi, Sarah J., Isaacs, Adrian M., Hardy, John, Warren, Jason D., Collinge, John, Mead, Simon
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier 2013
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3591848/
https://ncbi.nlm.nih.gov/pubmed/23434116
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.01.011
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