Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous Mutation by Ming-fang Shen, Ming-fang Shen, Ya-nan Hu, Wei-xiang Chen, Wei-xiang Chen, Li-sheng Liao, Li-sheng Liao, Min Wu, Qiu-yan Wu, Jian-hui Zhang, Yan-ping Zhang, Jie-wei Luo, Jie-wei Luo, Xin-fu Lin, Xin-fu Lin

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Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused by PLOD2 Variant by Ruo-li Wang, Ruo-li Wang, Ruo-li Wang, Dan-dan Ruan, Ya-nan Hu, Yu-mian Gan, Xin-fu Lin, Xin-fu Lin, Zhu-ting Fang, Zhu-ting Fang, Li-sheng Liao, Li-sheng Liao, Fa-qiang Tang, Fa-qiang Tang, Wu-bing He, Wu-bing He, Wu-bing He, Jie-wei Luo, Jie-wei Luo

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Case report and analysis: Behçet’s disease with lower extremity vein thrombosis and pseudoaneurysm by Han-Lu Wang, Jian-Hui Zhang, Yi-Cheng Wu, Jia-Li Lin, Yi Tang, Yi Tang, Li-Sheng Liao, Jie-Wei Luo, Qing-Hua Yu, Zhu-Ting Fang, Zhu-Ting Fang

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Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription by Yu-mian Gan, Yan-ping Zhang, Dan-dan Ruan, Jian-bin Huang, Yao-bin Zhu, Xin-fu Lin, Xiao-ping Xiao, Qiong Cheng, Zhen-bo Geng, Li-sheng Liao, Fa-qiang Tang, Jie-wei Luo

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Potential regulatory role of the Nrf2/HMGB1/TLR4/NF-κB signaling pathway in lupus nephritis by Shi-jie Li, Dan-dan Ruan, Wei-zhen Wu, Min Wu, Qiu-yan Wu, Han-lu Wang, Yuan-yuan Ji, Yan-ping Zhang, Xin-fu Lin, Zhu-ting Fang, Li-sheng Liao, Jie-wei Luo, Mei-zhu Gao, Jia-bin Wu

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Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency by Han-lu Wang, Dan-dan Ruan, Min Wu, Yuan-yuan Ji, Xing-xing Hu, Qiu-yan Wu, Yan-ping Zhang, Bin Lin, Ya-nan Hu, Hang Wang, Yi Tang, Zhu-ting Fang, Jie-wei Luo, Li-sheng Liao, Mei-zhu Gao

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