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A novel exon 2 I27V valosin-containing protein variant is associated with dissimilar clinical syndromes

Mutations in valosin-containing protein (VCP) are associated with a syndromic constellation of inclusion body myositis, Paget’s disease of bone and frontotemporal dementia. Here we describe the case reports of two patients with a novel variation (p.I27V) in the VCP gene that was not identified in a...

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Bibliografiset tiedot
Julkaisussa:J Neurol
Päätekijät: Rohrer, Jonathan D, Warren, Jason D, Reiman, David, Uphill, James, Beck, Jonathan, Collinge, John, Rossor, Martin N, Isaacs, Adrian M, Mead, Simon
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2011
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Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4606971/
https://ncbi.nlm.nih.gov/pubmed/21387114
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-011-5966-4
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