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©The Author(s) 2022.
World J Clin Cases. Dec 26, 2022; 10(36): 13426-13434
Published online Dec 26, 2022. doi: 10.12998/wjcc.v10.i36.13426
Published online Dec 26, 2022. doi: 10.12998/wjcc.v10.i36.13426
Figure 3 DNA sequencing analysis of glucocerebrosidase gene.
A and B: Exon 7 c.928A>G (p.S310G) novel heterozygous missense mutation compared to the corresponding wild-type sequence; C and D: Exon 10 c.1448T>C (p.L483P) heterozygous mutation compared to the corresponding wild-type sequence.
- Citation: Wen XL, Wang YZ, Zhang XL, Tu JQ, Zhang ZJ, Liu XX, Lu HY, Hao GP, Wang XH, Yang LH, Zhang RJ. Compound heterozygous p.L483P and p.S310G mutations in GBA1 cause type 1 adult Gaucher disease: A case report. World J Clin Cases 2022; 10(36): 13426-13434
- URL: https://www.wjgnet.com/2307-8960/full/v10/i36/13426.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v10.i36.13426