Please use this identifier to cite or link to this item:
https://biore.bio.bg.ac.rs/handle/123456789/2841
Title: | Yugoslav HD phenocopies analyzed on the presence of mutations in PrP, ferritin and JP-3 genes | Authors: | Keckarević, Milica Savić, Dušanka Svetel, Marina Kostić, Vladimir Vukosavić, Slobodanka Romac, Stanka |
Keywords: | Disease;Ferritin;Junctophilin;Mutation;Phenocopy;Prion | Issue Date: | Feb-2005 | Journal: | International Journal of Neuroscience | Abstract: | Huntington disease (HD) is a well-defined autosomal dominant neurodegenerative disease caused by CAG repeat expansions in HD gene. There are a significant number of HD cases where this mutation was not found and such cases are named HD-like phenotype (HDL). This article reports 48 patients with HDL phenotype. Patients were analyzed on the presence of mutations in prion (PrP), ferritin and junctophilin-3 (JP-3) genes. None of the patients showed the presence of the mutation in analyzed genes. This could suggest that there is some other gene/genes where the mutation can cause the disease with clinical features of HD. |
URI: | https://biore.bio.bg.ac.rs/handle/123456789/2841 | ISSN: | 0020-7454 | DOI: | 10.1080/00207450590519571 |
Appears in Collections: | Journal Article |
Files in This Item:
File | Description | Size | Format | Existing users please |
---|---|---|---|---|
Keckarevic et al. 2005 International Journal of Neuroscience.pdf | 56.71 kB | Adobe PDF | Request a copy |
SCOPUSTM
Citations
12
checked on May 11, 2024
Page view(s)
10
checked on May 15, 2024
Google ScholarTM
Check
Altmetric
Altmetric
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.