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Dalal, Ashwin and Das Bhowmik, A. and Agarwal, Divya and Phadke, S.R. (2015) Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family. Indian Journal of Medical Research, 142 (2). pp. 220-224. ISSN 0971-5916

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Abstract

We report a novel mutation in GJC2 gene that was identified by exome sequencing in two patients from a family with presumed single gene disorder causing slowly progressive ataxia and nystagmus with normal cognition.

Item Type: Article
Depositing User: Dr P Divakar
Date Deposited: 05 Oct 2015 05:37
Last Modified: 16 Jul 2019 18:36
URI: http://cdfd.sciencecentral.in/id/eprint/539

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