Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation

• Xiulan Lu,
• Xiulan Lu,
• Weijian Chen,
• Weijian Chen,
• Liping Li,
• Xinyuan Zhu,
• Caizhi Huang,
• Saijun Liu,
• Yongjia Yang,
• Yaowang Zhao,
• Yaowang Zhao

Affiliations

Xiulan Lu

The Laboratory of Genetics and Metabolism, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, University of South China, Changsha, China

Xiulan Lu

Pediatric Intensive Care Unit, Hunan Children’s Hospital, University of South China, Changsha, China

Weijian Chen

The Laboratory of Genetics and Metabolism, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, University of South China, Changsha, China

Weijian Chen

Department of Pathology, Hunan Children’s Hospital, University of South China, Changsha, China

Liping Li

The Laboratory of Genetics and Metabolism, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, University of South China, Changsha, China

Xinyuan Zhu

The Laboratory of Genetics and Metabolism, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, University of South China, Changsha, China

Caizhi Huang

The Laboratory of Genetics and Metabolism, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, University of South China, Changsha, China

Saijun Liu

BGI-China, Shenzhen, China

Yongjia Yang

The Laboratory of Genetics and Metabolism, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, University of South China, Changsha, China

Yaowang Zhao

The Laboratory of Genetics and Metabolism, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, University of South China, Changsha, China

Yaowang Zhao

Department of Urinary Surgery, Hunan Children’s Hospital, University of South China, Changsha, China