Exome-Sequencing Confirms DNAJC5 Mutations as Cause of Adult Neuronal Ceroid-Lipofuscinosis

We performed whole-exome sequencing in two autopsy-confirmed cases and an elderly unaffected control from a multigenerational family with autosomal dominant neuronal ceroid lipofuscinosis (ANCL). A novel single-nucleotide variation (c.344T>G) in the DNAJC5 gene was identified. Mutational screenin...

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Detalles Bibliográficos
Autores principales: Benitez, Bruno A., Alvarado, David, Cai, Yefei, Mayo, Kevin, Chakraverty, Sumitra, Norton, Joanne, Morris, John C., Sands, Mark S., Goate, Alison, Cruchaga, Carlos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3208569/
https://www.ncbi.nlm.nih.gov/pubmed/22073189
http://dx.doi.org/10.1371/journal.pone.0026741

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