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

BACKGROUND: Gaucher disease (GD) is caused by a GBA1 gene mutation that leads to decreased acid β-glucosidase activity [glucocerebrosidase (GCase)]. This study aimed to identify and characterise compound heterozygous mutations in GBA1 in a patient with type 1 GD. CASE SUMMARY: Here, we report a rare...

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Detalles Bibliográficos
Autores principales:	Wen, Xiao-Ling, Wang, Yao-Zi, Zhang, Xia-Lin, Tu, Jia-Qiang, Zhang, Zhi-Juan, Liu, Xia-Xia, Lu, Hai-Yan, Hao, Guo-Ping, Wang, Xiao-Huan, Yang, Lin-Hua, Zhang, Rui-Juan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Baishideng Publishing Group Inc 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9851016/ https://www.ncbi.nlm.nih.gov/pubmed/36683633 http://dx.doi.org/10.12998/wjcc.v10.i36.13426

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