Srivastava, A. K. ; Faruq, M. ; Dada, T. ; Garg, A. ; Singh, S. ; Mukerji, M. ; Behari, M. (2013) Spinocerebellar ataxia 7 (sca7) in India: Genotype–/INS;phenotype correlation and insight into origin of mutation in a predisposed endogamous population Journal of the Neurological Sciences, 333 (Suppl1). e107. 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.2013.07.639
Abstract
Background: Spinocerebellar ataxia (SCA7) is characterized by neuro-ophthalmic degeneration and occurs due to CAG repeat expansion in exon 3 of ATXN7 in the region of chromosome 3p12-p21.1. The SCA7 mutation has been identified in various ethnic and geographical regions with highest prevalence in South Africa and in the INS;Scandinavian region.
| Item Type: | Article |
|---|---|
| Source: | Copyright of this article belongs to Elsevier Science. |
| ID Code: | 103659 |
| Deposited On: | 01 Feb 2018 17:20 |
| Last Modified: | 01 Feb 2018 17:20 |
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