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A novel duplication mutation of SLC2A1 gene causing glucose transporter 1 deficiency syndrome.

作者信息

Huang Chaoyu, Huang Yunhua, Pan Liqiu, Li Linlin, Ling Xiaoting, Wang Chenghan, Xiao Qingxing, Zhai Ningneng, Long Yan, Mo Wuning, Lin Faquan, Huang Yifang

机构信息

Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning 530021, Guangxi, China.

Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning 530021, Guangxi, China.

出版信息

Gene. 2024 Nov 30;928:148762. doi: 10.1016/j.gene.2024.148762. Epub 2024 Jul 14.

DOI:10.1016/j.gene.2024.148762
PMID:39009233
Abstract
摘要

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Annu Rev Nutr. 2025 Apr 18. doi: 10.1146/annurev-nutr-111824-012939.