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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Autori principali: Benitez, Bruno A., Alvarado, David, Cai, Yefei, Mayo, Kevin, Chakraverty, Sumitra, Norton, Joanne, Morris, John C., Sands, Mark S., Goate, Alison, Cruchaga, Carlos
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2011
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3208569/
https://ncbi.nlm.nih.gov/pubmed/22073189
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0026741
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