Whole exome sequencing and functional validation identify CAPN1 variants as a cause of Chinese moyamoya disease

• Yue Wang,
• Zhengxing Zou,
• Zhibin Yang,
• Zhengshan Zhang,
• Jun Xu,
• Fangbin Hao,
• Juan Shen,
• Cong Han,
• Wanyang Liu,
• Lian Duan

Affiliations

Yue Wang

Department of Nutrition and Food Hygiene, School of Public Health, China Medical University, Shenyang, Liaoning 110122, China; Division of Pneumoconiosis, School of Public Health, China Medical University, Shenyang, Liaoning 110122, China

Zhengxing Zou

Department of Neurosurgery, The Fifth Medical Centre, Chinese PLA General Hospital (Former 307th Hospital of the PLA), Beijing 100071, China

Zhibin Yang

Department of Nutrition and Food Hygiene, School of Public Health, China Medical University, Shenyang, Liaoning 110122, China

Zhengshan Zhang

Department of Neurosurgery, The Fifth Medical Centre, Chinese PLA General Hospital (Former 307th Hospital of the PLA), Beijing 100071, China

Jun Xu

Department of Nutrition and Food Hygiene, School of Public Health, China Medical University, Shenyang, Liaoning 110122, China

Fangbin Hao

Department of Neurosurgery, The Fifth Medical Centre, Chinese PLA General Hospital (Former 307th Hospital of the PLA), Beijing 100071, China

Juan Shen

Department of Nutrition and Food Hygiene, School of Public Health, China Medical University, Shenyang, Liaoning 110122, China

Cong Han

Department of Neurosurgery, The Fifth Medical Centre, Chinese PLA General Hospital (Former 307th Hospital of the PLA), Beijing 100071, China

Wanyang Liu

Department of Nutrition and Food Hygiene, School of Public Health, China Medical University, Shenyang, Liaoning 110122, China; Corresponding author. Department of Nutrition and Food Hygiene, School of Public Health, China Medical University, No.77 Puhe Road, Shenyang North New Area, Shenyang, Liaoning 110122, China.

Lian Duan

Department of Neurosurgery, The Fifth Medical Centre, Chinese PLA General Hospital (Former 307th Hospital of the PLA), Beijing 100071, China; Corresponding author. Department of Neurosurgery, The Fifth Medical Centre, Chinese PLA General Hospital (Former 307th Hospital of the PLA), 8 Dongda Street, Fengtai District, Beijing 100071, China. Fax: +86 010 66947120.