Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations: A case report

doi:10.12998/wjcc.v11.i15.3533

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May 26, 2023 (publication date) through Jul 22, 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. May 26, 2023; 11(15): 3533-3541
Published online May 26, 2023. doi: 10.12998/wjcc.v11.i15.3533

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Figure 5 Whole exome sequencing revealed a mutation in the proband and the proband’s father and sister. The mutation was CLN6 chr15:68500542 exon 7 NM_017882.3:c.872C>T(p.Pro291Leu).

Citation: Wang XQ, Chen CB, Zhao WJ, Fu GB, Zhai Y. Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations: A case report. World J Clin Cases 2023; 11(15): 3533-3541
URL: https://www.wjgnet.com/2307-8960/full/v11/i15/3533.htm
DOI: https://dx.doi.org/10.12998/wjcc.v11.i15.3533