Srivastava, A. K. ; Faruq, M. ; Shakya, S. ; Negi, P. ; Kumar, D. ; Kumar, N. ; Goyal, V. ; Mukerji, M. ; Behari, M. (2013) Reduced penetrance alleles of TBP (SCA17) in Indian ataxia cohort: Homozygous mutation and ambiguity of 41–/INS;44 CAG/CAA for pathogenic association Journal of the Neurological Sciences, 333 . e69. ISSN 0022-510X
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Official URL: http://www.jns-journal.com/article/S0022-510X(13)0...
Related URL: http://dx.doi.org/10.1016/j.jns.2013.07.519
Abstract
Background: CAG/CAA expansion mutation in TBP causes spinocerebellar-ataxia 17 (SCA17), characterized by wide spectrum of neurological impairments including cerebellar-ataxia, psycho-cognitive disturbance, dementia and extrapyramidal signs. The repeats >48CAG/CAA produce typical SCA17 manifestations whereas 41–/INS;44(CAG/CAA) repeats are reduce penetrant alleles and have been documented/INS; both in the cases and healthy-controls.
| Item Type: | Article |
|---|---|
| Source: | Copyright of this article belongs to Elsevier Science. |
| ID Code: | 103662 |
| Deposited On: | 13 Mar 2017 09:27 |
| Last Modified: | 01 Feb 2018 17:20 |
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