Compound heterozygous mutations in tripeptidyl peptidase 1 cause rare autosomal recessive spinocerebellar ataxia type 7: A case report

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Sep 26, 2023 (publication date) through Dec 20, 2024

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World Journal of Clinical Cases

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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. Sep 26, 2023; 11(27): 6618-6623
Published online Sep 26, 2023. doi: 10.12998/wjcc.v11.i27.6618

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Figure 3 Family pedigree. Black shading represents c.1417G>A and gray shading represents c.1468G>A. ‘wt’ denotes wild-type.

Citation: Liu RH, Wang XY, Jia YY, Wang XC, Xia M, Nie Q, Guo J, Kong QX. Compound heterozygous mutations in tripeptidyl peptidase 1 cause rare autosomal recessive spinocerebellar ataxia type 7: A case report. World J Clin Cases 2023; 11(27): 6618-6623
URL: https://www.wjgnet.com/2307-8960/full/v11/i27/6618.htm
DOI: https://dx.doi.org/10.12998/wjcc.v11.i27.6618