Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of motor neurons. Single-nucleotide polymorphism rs3849942 is associated with ALS, tagging a hexanucleotide repeat mutation in the C9orf72 gene. It is possible that there is more than 1 disease-causing genetic variation at this locus...

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書誌詳細
主要な著者: Jones, Ashley R., Woollacott, Ione, Shatunov, Aleksey, Cooper-Knock, Johnathan, Buchman, Vladimir, Sproviero, William, Smith, Bradley, Scott, Kirsten M., Balendra, Rubika, Abel, Olubunmi, McGuffin, Peter, Ellis, Catherine M., Shaw, Pamela J., Morrison, Karen E., Farmer, Anne, Lewis, Cathryn M., Leigh, P. Nigel, Shaw, Christopher E., Powell, John F., Al-Chalabi, Ammar
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2013
主題:
Genetics Reports Abstract
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3753508/
https://ncbi.nlm.nih.gov/pubmed/23587638
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2013.03.003
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