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An Evaluation of a SVA Retrotransposon in the FUS Promoter as a Transcriptional Regulator and Its Association to ALS

Genetic mutations of FUS have been linked to many diseases including Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar Degeneration. A primate specific and polymorphic retrotransposon of the SINE-VNTR-Alu (SVA) family is present upstream of the FUS gene. Here we have demonstrated that thi...

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Detalles Bibliográficos
Autores principales: Savage, Abigail L., Wilm, Thomas P., Khursheed, Kejhal, Shatunov, Aleksey, Morrison, Karen E., Shaw, Pamela J., Shaw, Christopher E., Smith, Bradley, Breen, Gerome, Al-Chalabi, Ammar, Moss, Diana, Bubb, Vivien J., Quinn, John P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3946630/
https://www.ncbi.nlm.nih.gov/pubmed/24608899
http://dx.doi.org/10.1371/journal.pone.0090833