A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20
Human Molecular Genetics, ISSN: 0964-6906, Vol: 17, Issue: 24, Page: 3847-3853
2008
- 51Citations
- 32Captures
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Example: if you select the 1-year option for an article published in 2019 and a metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019. If you select the 3-year option for the same article published in 2019 and the metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019, 2018 and 2017.
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Metrics Details
- Citations51
- Citation Indexes51
- 51
- CrossRef38
- Captures32
- Readers32
- 32
Article Description
Spinocerebellar ataxia type 20 (SCA20) has been linked to chromosome 11q12, but the underlying genetic defect has yet to be identified. We applied single-nucleotide polymorphism genotyping to detect structural alterations in the genomic DNA of patients with SCA20. We found a 260 kb duplication within the previously linked SCA20 region, which was confirmed by quantitative polymerase chain reaction and fiber fluorescence in situ hybridization, the latter also showing its direct orientation. The duplication spans 10 known and 2 unknown genes, and is present in all affected individuals in the single reported SCA20 pedigree. While the mechanism whereby this duplication may be pathogenic remains to be established, we speculate that the critical gene within the duplicated segment may be DAGLA, the product of which is normally present at the base of Purkinje cell dendritic spines and contributes to the modulation of parallel fiber-Purkinje cell synapses. © 2008 The Author(s).
Bibliographic Details
http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=57149108745&origin=inward; http://dx.doi.org/10.1093/hmg/ddn283; http://www.ncbi.nlm.nih.gov/pubmed/18801880; https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/ddn283; https://dx.doi.org/10.1093/hmg/ddn283; https://academic.oup.com/hmg/article/17/24/3847/556835; http://hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddn283; https://academic.oup.com/hmg/article-pdf/17/24/3847/1479679/ddn283.pdf; http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddn283; https://academic.oup.com/hmg; http://hmg.oxfordjournals.org/content/17/24/3847
Oxford University Press (OUP)
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