A novel homozygous no-stop mutation in <em>G6PC</em> gene from a Chinese patient with glycogen storage disease type Ia期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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*A novel homozygous no-stop mutation in G6PC* gene from a Chinese patient with glycogen storage disease type Ia**

Authors:	Lei-Lei Gu Xin-Hua Li Yue Han Dong-Hua Zhang Qi-Ming Gong Xin-Xin Zhang

Institution:	1. Department of Infectious Diseases, Institute of Infectious and Respiratory Diseases, Rui Jin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China;2. Sino-French Laboratory of Life Science and Genomics, Rui Jin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China

Abstract:

Keywords:	ACE angiotensin-converting enzyme ALT alanine aminotransferase AST aspartate aminotransferase CMV cytomegalovirus DBil direct bilirubin EBV Epstein&ndash Barr virus ER endoplasmic reticulum GGT γ-glutamyltranspeptidase GSD-I glycogen storage disease type I GSD-Ia glycogen storage disease type Ia G6P glucose-6-phosphate G6Pase glucose-6-phosphatase G6PC glucose-6-phosphatase catalytic G6PT glucose-6-phosphate transporter HBsAg hepatitis B surface antigen HBcAg hepatitis B core antigen HIV human immunodeficiency virus PT prothrombin time SNP single nucleotide polymorphism TBil total bilirubin
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