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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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| Izdano u: | J Neurol |
|---|---|
| Glavni autori: | , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2011
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| Teme: | |
| Online pristup: | 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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