机译:一个创始人的榴弹炮突变导致糖原存储疾病类型髂骨在因纽特人确认通过whole-exome测序:系列
Mutation; Glycogen Storage Disease; Family MembersInuitfounder effect;
机译:Compound heterozygous patient with glycogen storage disease type III: Identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin
机译:Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
机译:Novel mutations in two Japanese cases of glycogen storage disease type IIIa and a review of the literature of the molecular basis of glycogen storage disease type III.