A Novel, Recurrent, 3.6-kb Deletion in the PYGL Gene Contributes to Glycogen Storage Disease Type VI.

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作者： Bo,Liu ^[1] ; Bingbing,Wu ^[2] ; Yi,Lu ^[3] ; Ping,Zhang ^[2] ; Feifan,Xiao ^[4] ; Gang,Li ^[5] ; Huijun,Wang ^[6] ; Xinran,Dong ^[5] ; Renchao,Liu ^[2] ; Yuchuan,Li ^[3] ; Xinbao,Xie ^[3] ; Wenhao,Zhou ^[7] ; Jianshe,Wang ^[8] ; Yulan,Lu ^[9]

作者单位： Centers for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China; Institutes of Biomedical Sciences, Children's Hospital of Fudan University, Shanghai, China. ^[1] Centers for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China; Shanghai Key Laboratory of Birth Defects, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China. ^[2] Department of Hepatology and Infectious Disease, Children's Hospital of Fudan University, Shanghai, China. ^[3] Institutes of Biomedical Sciences, Children's Hospital of Fudan University, Shanghai, China. ^[4] Centers for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China. ^[5] Shanghai Key Laboratory of Birth Defects, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China. ^[6] Institutes of Biomedical Sciences, Children's Hospital of Fudan University, Shanghai, China; Shanghai Key Laboratory of Birth Defects, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China. ^[7] Department of Hepatology and Infectious Disease, Children's Hospital of Fudan University, Shanghai, China; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China. Electronic address: jshwang@shmu.edu.cn. ^[8] Institutes of Biomedical Sciences, Children's Hospital of Fudan University, Shanghai, China. Electronic address: yulanlu@fudan.edu.cn. ^[9]