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Article

Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families.

Clinical genetics - 1 Oct 2014

Faruq M, Narang A, Kumari R, Pandey R, Garg A, Behari M, Dash D, Srivastava A K, Mukerji M

Abstract excerpt

Nearly a thousand mutations mapping to 60 different loci have been identified in cerebellar ataxias. However, almost 50% of the cases remain genetically uncharacterized and there is a difference in prevalence as well as in the phenotypic spectrum of ataxia among various geographical regions. This poses a challenge for setting up a genetic panel for screening ataxia. In our ataxic cohort of 1014 families, 61% are...

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Identifiers

PMID: 24102492
DOI: 10.1111/cge.12279

Genes

CLN6
SACS

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