机译:一个创始人的榴弹炮突变导致糖原存储疾病类型iii a因纽特人确认通过whole-exome测序:系列
Montreal Childrens Hosp, Dept Pediat, Montreal, PQ H3H 1P3, Canada;
Univ Manitoba, Dept Pediat & Child Hlth, Winnipeg, MB R3T 2N2, Canada;
Okinaka Mem Inst Med Res, Tokyo, JapanMcGill Univ, Montreal Childrens Hosp, Ctr Hlth, Endocrine Genet Lab, Montreal, PQ H3H 1P3, Canada;
Hepatomegaly; Mutation; HypoglycemiaGlycogen Storage DiseaseInuitDetermination, DNA Sequence;
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.
机译:Clinical and genetic variability of glycogen storage disease type IIIa: Seven novel AGL gene mutations in the Mediterranean area
机译:Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.