Compound heterozygous p.L483P and p.S310G mutations in GBA1 cause type 1 adult Gaucher disease: A case report

doi:10.12998/wjcc.v10.i36.13426

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Dec 26, 2022 (publication date) through Jun 30, 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. Dec 26, 2022; 10(36): 13426-13434
Published online Dec 26, 2022. doi: 10.12998/wjcc.v10.i36.13426

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Figure 1 Bone marrow cytomorphology. Haematoxylin-eosin stain (magnification: 100 ×).

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