دورية أكاديمية
SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia.
| العنوان: | SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia. |
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| المؤلفون: | Nickerson, SL, Marquis-Nicholson, R, Claxton, K, Ashton, F, Leong, IUS, Prosser, DO, Love, JM, George, AM, Taylor, G, Wilson, C, Gardner, RJM, Love, DR |
| بيانات النشر: | MDPI AG |
| سنة النشر: | 2015 |
| المجموعة: | The University of Melbourne: Digital Repository |
| الوصف: | Autosomal recessive cerebellar ataxia encompasses a large and heterogeneous group of neurodegenerative disorders. We employed single nucleotide polymorphism (SNP) analysis and whole exome sequencing to investigate a consanguineous Maori pedigree segregating ataxia. We identified a novel mutation in exon 10 of the SACS gene: c.7962T>G p.(Tyr2654*), establishing the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Our findings expand both the genetic and phenotypic spectrum of this rare disorder, and highlight the value of high-density SNP analysis and whole exome sequencing as powerful and cost-effective tools in the diagnosis of genetically heterogeneous disorders such as the hereditary ataxias. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 2076-3905 |
| العلاقة: | pii: microarrays4040490; Nickerson, S. L., Marquis-Nicholson, R., Claxton, K., Ashton, F., Leong, I. U. S., Prosser, D. O., Love, J. M., George, A. M., Taylor, G., Wilson, C., Gardner, R. J. M. & Love, D. R. (2015). SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia. Microarrays (Basel), 4 (4), pp.490-502. https://doi.org/10.3390/microarrays4040490Test.; http://hdl.handle.net/11343/260247Test |
| الإتاحة: | https://doi.org/10.3390/microarrays4040490Test http://hdl.handle.net/11343/260247Test |
| حقوق: | CC BY ; https://creativecommons.org/licenses/by/4.0Test |
| رقم الانضمام: | edsbas.18AC7620 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 20763905 |
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