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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2013
Materias:
Genetics Reports Abstract
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3753508/
https://www.ncbi.nlm.nih.gov/pubmed/23587638
http://dx.doi.org/10.1016/j.neurobiolaging.2013.03.003

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