Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula: A case report and review of literature

doi:10.12998/wjcc.v8.i8.1477

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Apr 26, 2020 (publication date) through Dec 25, 2024

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World Journal of Clinical Cases

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2307-8960

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Clin Cases. Apr 26, 2020; 8(8): 1477-1488
Published online Apr 26, 2020. doi: 10.12998/wjcc.v8.i8.1477

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Figure 3 Flowchart representing the filtering strategy employed in the analysis of exome sequencing to reach a diagnosis in the proband II-3. UTR: Untranslated region.

Citation: Al-Ajmi A, Shamsah S, Janicijevic A, Williams M, Al-Mulla F. Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula: A case report and review of literature. World J Clin Cases 2020; 8(8): 1477-1488
URL: https://www.wjgnet.com/2307-8960/full/v8/i8/1477.htm
DOI: https://dx.doi.org/10.12998/wjcc.v8.i8.1477