Identification of a novel deletion mutation in PHKA2 in a taiwanese patient with type IXa glycogen storage disease

• Wei-De Lin,
• Fuu-Jen Tsai,
• Chung-Hsing Wang

Affiliations

Wei-De Lin

Department of Medical Research, China Medical University Hospital, Taichung, Taiwan; School of Post Baccalaureate Chinese Medicine, China Medical University, Taichung, Taiwan

Fuu-Jen Tsai

Department of Medical Research, China Medical University Hospital, Taichung, Taiwan; Division of Genetics and Metabolism, China Medical University Children's Hospital, Taichung, Taiwan; Department of Medical Genetics, China Medical University Hospital, Taichung, Taiwan; School of Chinese Medicine, China Medical University, Taichung, Taiwan; Department of Medical Laboratory Science and Biotechnology, Asia University, Taichung, Taiwan

Chung-Hsing Wang

Division of Genetics and Metabolism, China Medical University Children's Hospital, Taichung, Taiwan; School of Medicine, China Medical University, Taichung, Taiwan; Corresponding author. Division of Genetics and Metabolism, China Medical University Children's Hospital, No. 2, Yude Road, 404, Taichung, Taiwan.