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机译:Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.;
1; 4-alpha-Glucan Branching Enzyme; Glycogen Storage Disease Type IV; Liver Diseases; 4-α葡聚糖分支酶; 糖原累积病Ⅳ型; 肝疾病; 神经肌肉疾病; 点突变;