English   español  
Por favor, use este identificador para citar o enlazar a este item: http://hdl.handle.net/10261/133613
COMPARTIR / IMPACTO:
Estadísticas
logo share SHARE logo core CORE   Add this article to your Mendeley library MendeleyBASE

Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL
Exportar a otros formatos:
Título

Distinct X-chromosome SNVs from some sporadic AD samples

AutorGómez-Ramos, A.; Podlesniy, Petar ; Soriano, E.; Ávila, Jesús
Fecha de publicación9-dic-2015
EditorNature Publishing Group
CitaciónScientific Reports 5 (2015)
ResumenSporadic Alzheimer disease (SAD) is the most prevalent neurodegenerative disorder. With the development of new generation DNA sequencing technologies, additional genetic risk factors have been described. Here we used various methods to process DNA sequencing data in order to gain further insight into this important disease. We have sequenced the exomes of brain samples from SAD patients and non-demented controls. Using either method, we found a higher number of single nucleotide variants (SNVs), from SAD patients, in genes present at the X chromosome. Using the most stringent method, we validated these variants by Sanger sequencing. Two of these gene variants, were found in loci related to the ubiquitin pathway (UBE2NL and ATXN3L), previously do not described as genetic risk factors for SAD.
URIhttp://hdl.handle.net/10261/133613
DOI10.1038/srep18012
Identificadoresdoi: 10.1038/srep18012
issn: 2045-2322
Aparece en las colecciones: (CBM) Artículos
Ficheros en este ítem:
Fichero Descripción Tamaño Formato  
AvilaJ_DistinctX-ChromosomeSNVsFromSome.pdf1,55 MBAdobe PDFVista previa
Visualizar/Abrir
Mostrar el registro completo
 

Artículos relacionados:


NOTA: Los ítems de Digital.CSIC están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.